Canonical Allele Identifier: CA2695121423

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154413061-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413061G>C , CM000685.2:g.154413061G>C	GRCh38
NC_000023.10:g.153641398G>C , CM000685.1:g.153641398G>C	GRCh37
NC_000023.9:g.153294592G>C	NCBI36
NG_009634.1:g.6522G>C
NG_012884.2:g.4028C>G
NG_009634.2:g.6527G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.667-146G>C
ENST00000698235.1:n.226-146G>C
ENST00000698317.1:n.1047G>C
ENST00000698318.1:n.908G>C
ENST00000470127.2:n.142G>C
ENST00000475699.6:c.293-146G>C	ENSP00000419854.3:n.293-146G>C
ENST00000476800.2:n.1050G>C
ENST00000483674.3:n.130-146G>C
ENST00000601016.6:c.239-146G>C MANE Select	ENSP00000469981.1:n.239-146G>C
ENST00000612012.5:c.239-146G>C	ENSP00000482070.2:n.239-146G>C
ENST00000612460.5:c.239-146G>C	ENSP00000481037.1:n.239-146G>C
ENST00000614595.2:n.1443G>C
ENST00000615658.5:n.552-146G>C
ENST00000616020.5:c.293-146G>C	ENSP00000483636.2:n.293-146G>C
ENST00000617701.5:c.239-146G>C	ENSP00000481645.1:n.239-146G>C
ENST00000621647.2:n.292-146G>C
ENST00000652354.1:c.-38-146G>C	ENSP00000498734.1:n.-38-146G>C
ENST00000652358.1:c.-56-146G>C	ENSP00000498464.1:n.-56-146G>C
ENST00000652390.1:c.158-146G>C	ENSP00000498858.1:n.158-146G>C
ENST00000652476.1:n.400-146G>C
ENST00000652682.1:c.239-146G>C	ENSP00000498288.1:n.239-146G>C
ENST00000652685.1:n.291-146G>C
ENST00000369776.8:c.164-146G>C	ENSP00000358791.4:n.164-146G>C
ENST00000426231.5:c.55-146G>C
ENST00000439735.2:c.239-146G>C	ENSP00000398193.1:n.239-146G>C
ENST00000475699.5:c.239-146G>C	ENSP00000419854.2:n.239-146G>C
ENST00000476679.5:n.152-146G>C
ENST00000479875.1:n.267+74G>C
ENST00000483780.5:n.13-146G>C
ENST00000601016.5:c.239-146G>C	ENSP00000469981.1:n.239-146G>C
ENST00000612012.4:c.293-146G>C	ENSP00000482070.1:n.293-146G>C
ENST00000612460.4:c.239-146G>C	ENSP00000481037.1:n.239-146G>C
ENST00000613002.4:c.239-146G>C	ENSP00000478154.1:n.239-146G>C
ENST00000613634.4:n.559-146G>C
ENST00000615658.4:n.565-146G>C
ENST00000615986.4:c.239-146G>C	ENSP00000480133.1:n.239-146G>C
ENST00000616020.4:c.293-146G>C	ENSP00000483636.1:n.293-146G>C
ENST00000617701.4:c.239-146G>C	ENSP00000481645.1:n.239-146G>C
ENST00000620808.4:c.239-146G>C	ENSP00000479311.1:n.239-146G>C
ENST00000621647.1:n.524-146G>C
NM_000116.4:c.239-146G>C	NP_000107.1:n.239-146G>C
NM_001303465.1:c.293-146G>C	NP_001290394.1:n.293-146G>C
NM_181311.3:c.239-146G>C	NP_851828.1:n.239-146G>C
NM_181312.3:c.239-146G>C	NP_851829.1:n.239-146G>C
NM_181313.3:c.239-146G>C	NP_851830.1:n.239-146G>C
NR_024048.2:n.565-146G>C
XM_006724836.1:c.293-146G>C	XP_006724899.1:n.293-146G>C
XM_006724837.1:c.293-146G>C	XP_006724900.1:n.293-146G>C
XM_006724839.1:c.293-146G>C	XP_006724902.1:n.293-146G>C
XM_006724841.2:c.-56-146G>C	XP_006724904.1:n.-56-146G>C
XM_006724842.2:c.-56-146G>C	XP_006724905.1:n.-56-146G>C
XM_011531189.1:c.293-146G>C	XP_011529491.1:n.293-146G>C
XM_011531190.1:c.-57+87G>C	XP_011529492.1:n.-57+87G>C
XM_011531191.1:c.-39+87G>C	XP_011529493.1:n.-39+87G>C
XM_011531192.1:c.-160+87G>C	XP_011529494.1:n.-160+87G>C
XR_938511.1:n.596-146G>C
XM_006724841.4:c.-56-146G>C	XP_006724904.1:n.-56-146G>C
XM_006724842.4:c.-56-146G>C	XP_006724905.1:n.-56-146G>C
XM_011531191.2:c.-39+87G>C	XP_011529493.1:n.-39+87G>C
XM_017029761.1:c.239-146G>C	XP_016885250.1:n.239-146G>C
XM_017029762.1:c.293-146G>C	XP_016885251.1:n.293-146G>C
XM_017029763.1:c.239-146G>C	XP_016885252.1:n.239-146G>C
XM_017029765.2:c.-56-146G>C	XP_016885254.1:n.-56-146G>C
XM_024452431.1:c.293-146G>C	XP_024308199.1:n.293-146G>C
NM_000116.5:c.239-146G>C MANE Select	NP_000107.1:n.239-146G>C
NM_001303465.2:c.293-146G>C	NP_001290394.1:n.293-146G>C
NM_181311.4:c.239-146G>C	NP_851828.1:n.239-146G>C
NM_181312.4:c.239-146G>C	NP_851829.1:n.239-146G>C
NM_181313.4:c.239-146G>C	NP_851830.1:n.239-146G>C
NR_024048.3:n.544-146G>C