Canonical Allele Identifier: CA401027027

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516805-G-A
• MyVariant Identifiers: chr17:g.73512886G>A (hg19) ; chr17:g.75516805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516805G>A , CM000679.2:g.75516805G>A	GRCh38
NC_000017.10:g.73512886G>A , CM000679.1:g.73512886G>A	GRCh37
NC_000017.9:g.71024481G>A	NCBI36
NG_013041.1:g.5278G>A
NG_033152.1:g.3779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.116G>A MANE Select	ENSP00000327487.6:p.Gly39Asp
ENST00000434205.8:c.-82-204G>A	ENSP00000406559.4:n.-82-204G>A
ENST00000545228.3:c.116G>A	ENSP00000438169.3:p.Gly39Asp
ENST00000579449.2:n.20+189G>A
ENST00000580013.6:n.125G>A
ENST00000583818.2:c.116G>A	ENSP00000461928.2:p.Gly39Asp
ENST00000679370.1:n.503G>A
ENST00000679429.1:c.116G>A	ENSP00000505403.1:p.Gly39Asp
ENST00000679782.1:c.116G>A	ENSP00000505995.1:p.Gly39Asp
ENST00000679928.1:c.116G>A	ENSP00000506071.1:p.Gly39Asp
ENST00000680528.1:n.141G>A
ENST00000680999.1:c.116G>A	ENSP00000504984.1:p.Gly39Asp
ENST00000681282.1:c.116G>A	ENSP00000506339.1:p.Gly39Asp
ENST00000333213.10:c.116G>A	ENSP00000327487.6:p.Gly39Asp
ENST00000434205.7:c.-82-204G>A	ENSP00000406559.3:n.-82-204G>A
ENST00000580013.5:n.141G>A
ENST00000583173.5:c.56+189G>A	ENSP00000463619.1:n.56+189G>A
ENST00000583454.1:n.151G>A
ENST00000583818.1:c.11G>A	ENSP00000461928.1:p.Gly4Asp
NM_207346.2:c.116G>A	NP_997229.2:p.Gly39Asp
XM_005257229.2:c.116G>A	XP_005257286.1:p.Gly39Asp
XM_006721821.2:c.-188G>A	XP_006721884.1:n.-188G>A
XM_011524616.1:c.116G>A	XP_011522918.1:p.Gly39Asp
XM_011524617.1:c.116G>A	XP_011522919.1:p.Gly39Asp
XM_011524618.1:c.116G>A	XP_011522920.1:p.Gly39Asp
XR_243646.2:n.146G>A
XM_005257229.4:c.116G>A	XP_005257286.1:p.Gly39Asp
XR_243646.4:n.152G>A
NM_207346.3:c.116G>A MANE Select	NP_997229.2:p.Gly39Asp