Canonical Allele Identifier: CA401029863

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522199-A-C
• MyVariant Identifiers: chr17:g.73518280A>C (hg19) ; chr17:g.75522199A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522199A>C , CM000679.2:g.75522199A>C	GRCh38
NC_000017.10:g.73518280A>C , CM000679.1:g.73518280A>C	GRCh37
NC_000017.9:g.71029875A>C	NCBI36
NG_013041.1:g.10672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1118A>C MANE Select	ENSP00000327487.6:p.Gln373Pro
ENST00000434205.8:c.815A>C	ENSP00000406559.4:p.Gln272Pro
ENST00000545228.3:c.1118A>C	ENSP00000438169.3:p.Gln373Pro
ENST00000579449.2:n.917A>C
ENST00000580013.6:n.1321A>C
ENST00000679370.1:n.1699A>C
ENST00000679429.1:c.*576A>C	ENSP00000505403.1:n.*576A>C
ENST00000679443.1:n.1187A>C
ENST00000679782.1:c.1118A>C	ENSP00000505995.1:p.Gln373Pro
ENST00000679919.1:n.1187A>C
ENST00000679928.1:c.*729A>C	ENSP00000506071.1:n.*729A>C
ENST00000680528.1:n.1143A>C
ENST00000680999.1:c.1118A>C	ENSP00000504984.1:p.Gln373Pro
ENST00000681282.1:c.*364A>C	ENSP00000506339.1:n.*364A>C
ENST00000333213.10:c.1118A>C	ENSP00000327487.6:p.Gln373Pro
ENST00000545228.2:c.207A>C
ENST00000583173.5:c.651A>C	ENSP00000463619.1:n.651A>C
NM_207346.2:c.1118A>C	NP_997229.2:p.Gln373Pro
XM_005257229.2:c.1118A>C	XP_005257286.1:p.Gln373Pro
XM_006721821.2:c.815A>C	XP_006721884.1:p.Gln272Pro
XM_011524616.1:c.1118A>C	XP_011522918.1:p.Gln373Pro
XM_011524617.1:c.1118A>C	XP_011522919.1:p.Gln373Pro
XM_011524618.1:c.1118A>C	XP_011522920.1:p.Gln373Pro
XR_243646.2:n.1148A>C
XM_005257229.4:c.1118A>C	XP_005257286.1:p.Gln373Pro
XR_243646.4:n.1154A>C
NM_207346.3:c.1118A>C MANE Select	NP_997229.2:p.Gln373Pro