Canonical Allele Identifier: CA10562315

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs782604381
• ExAC: X:153641734 G / C
• gnomAD v2: X-153641734-G-C
• gnomAD v3: X-154413397-G-C
• gnomAD v4: X-154413397-G-C
• MyVariant Identifiers: chrX:g.153641734G>C (hg19) ; chrX:g.154413397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413397G>C , CM000685.2:g.154413397G>C	GRCh38
NC_000023.10:g.153641734G>C , CM000685.1:g.153641734G>C	GRCh37
NC_000023.9:g.153294928G>C	NCBI36
NG_009634.1:g.6858G>C
NG_012884.2:g.3692C>G
NG_009634.2:g.6863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.818+39G>C
ENST00000698235.1:n.358+58G>C
ENST00000698317.1:n.1344+39G>C
ENST00000698318.1:n.1217+27G>C
ENST00000470127.2:n.478G>C
ENST00000475699.6:c.339-85G>C	ENSP00000419854.3:n.339-85G>C
ENST00000476800.2:n.1386G>C
ENST00000483674.3:n.176-85G>C
ENST00000601016.6:c.285-85G>C MANE Select	ENSP00000469981.1:n.285-85G>C
ENST00000612012.5:c.285-85G>C	ENSP00000482070.2:n.285-85G>C
ENST00000612460.5:c.285-85G>C	ENSP00000481037.1:n.285-85G>C
ENST00000614595.2:n.1721+58G>C
ENST00000615658.5:n.598-85G>C
ENST00000616020.5:c.339-85G>C	ENSP00000483636.2:n.339-85G>C
ENST00000617701.5:c.*102+39G>C	ENSP00000481645.1:n.*102+39G>C
ENST00000621647.2:n.482G>C
ENST00000652354.1:c.9-85G>C	ENSP00000498734.1:n.9-85G>C
ENST00000652358.1:c.77+58G>C	ENSP00000498464.1:n.77+58G>C
ENST00000652390.1:c.204-85G>C	ENSP00000498858.1:n.204-85G>C
ENST00000652476.1:n.590G>C
ENST00000652682.1:c.285-85G>C	ENSP00000498288.1:n.285-85G>C
ENST00000652685.1:n.442+39G>C
ENST00000369776.8:c.210-85G>C	ENSP00000358791.4:n.210-85G>C
ENST00000426231.5:c.200+45G>C
ENST00000439735.2:c.285-85G>C	ENSP00000398193.1:n.285-85G>C
ENST00000475699.5:c.285-85G>C	ENSP00000419854.2:n.285-85G>C
ENST00000476679.5:n.198-85G>C
ENST00000476800.1:n.307G>C
ENST00000479875.1:n.314-85G>C
ENST00000483780.5:n.59-85G>C
ENST00000601016.5:c.285-85G>C	ENSP00000469981.1:n.285-85G>C
ENST00000612012.4:c.339-85G>C	ENSP00000482070.1:n.339-85G>C
ENST00000612460.4:c.285-85G>C	ENSP00000481037.1:n.285-85G>C
ENST00000613002.4:c.285-85G>C	ENSP00000478154.1:n.285-85G>C
ENST00000613634.4:n.605-85G>C
ENST00000615658.4:n.697+58G>C
ENST00000615986.4:c.*102+39G>C	ENSP00000480133.1:n.*102+39G>C
ENST00000616020.4:c.339-85G>C	ENSP00000483636.1:n.339-85G>C
ENST00000617701.4:c.*114+27G>C	ENSP00000481645.1:n.*114+27G>C
ENST00000620808.4:c.*83+58G>C	ENSP00000479311.1:n.*83+58G>C
ENST00000621647.1:n.714G>C
NM_000116.4:c.285-85G>C	NP_000107.1:n.285-85G>C
NM_001303465.1:c.339-85G>C	NP_001290394.1:n.339-85G>C
NM_181311.3:c.285-85G>C	NP_851828.1:n.285-85G>C
NM_181312.3:c.285-85G>C	NP_851829.1:n.285-85G>C
NM_181313.3:c.285-85G>C	NP_851830.1:n.285-85G>C
NR_024048.2:n.716+39G>C
XM_006724836.1:c.339-85G>C	XP_006724899.1:n.339-85G>C
XM_006724837.1:c.339-85G>C	XP_006724900.1:n.339-85G>C
XM_006724839.1:c.339-85G>C	XP_006724902.1:n.339-85G>C
XM_006724841.2:c.77+58G>C	XP_006724904.1:n.77+58G>C
XM_006724842.2:c.77+58G>C	XP_006724905.1:n.77+58G>C
XM_011531189.1:c.339-85G>C	XP_011529491.1:n.339-85G>C
XM_011531190.1:c.77+58G>C	XP_011529492.1:n.77+58G>C
XM_011531191.1:c.9-85G>C	XP_011529493.1:n.9-85G>C
XM_011531192.1:c.5+27G>C	XP_011529494.1:n.5+27G>C
XR_938511.1:n.642-85G>C
XM_006724841.4:c.77+58G>C	XP_006724904.1:n.77+58G>C
XM_006724842.4:c.77+58G>C	XP_006724905.1:n.77+58G>C
XM_011531191.2:c.9-85G>C	XP_011529493.1:n.9-85G>C
XM_017029761.1:c.285-85G>C	XP_016885250.1:n.285-85G>C
XM_017029762.1:c.339-85G>C	XP_016885251.1:n.339-85G>C
XM_017029763.1:c.285-85G>C	XP_016885252.1:n.285-85G>C
XM_017029764.1:c.5+27G>C	XP_016885253.1:n.5+27G>C
XM_017029765.2:c.77+58G>C	XP_016885254.1:n.77+58G>C
XM_024452431.1:c.339-85G>C	XP_024308199.1:n.339-85G>C
NM_000116.5:c.285-85G>C MANE Select	NP_000107.1:n.285-85G>C
NM_001303465.2:c.339-85G>C	NP_001290394.1:n.339-85G>C
NM_181311.4:c.285-85G>C	NP_851828.1:n.285-85G>C
NM_181312.4:c.285-85G>C	NP_851829.1:n.285-85G>C
NM_181313.4:c.285-85G>C	NP_851830.1:n.285-85G>C
NR_024048.3:n.695+39G>C