Canonical Allele Identifier: CA392099275

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252842-G-A
• MyVariant Identifiers: chr15:g.43545040G>A (hg19) ; chr15:g.43252842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252842G>A , CM000677.2:g.43252842G>A	GRCh38
NC_000015.9:g.43545040G>A , CM000677.1:g.43545040G>A	GRCh37
NC_000015.8:g.41332332G>A	NCBI36
NG_016124.1:g.19016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.779C>T MANE Select	ENSP00000220420.5:p.Ala260Val
ENST00000635871.1:n.248C>T
ENST00000220420.9:c.779C>T	ENSP00000220420.5:p.Ala260Val
ENST00000349114.8:c.533C>T	ENSP00000220419.8:p.Ala178Val
ENST00000610827.4:c.776C>T	ENSP00000479732.1:p.Ala259Val
ENST00000611276.4:c.530C>T	ENSP00000482542.1:p.Ala177Val
ENST00000622115.1:c.782C>T	ENSP00000479638.1:p.Ala261Val
NM_004245.3:c.533C>T	NP_004236.1:p.Ala178Val
NM_201631.3:c.779C>T	NP_963925.2:p.Ala260Val
XM_011522229.1:c.779C>T	XP_011520531.1:p.Ala260Val
XR_931948.1:n.953C>T
NM_004245.4:c.533C>T	NP_004236.1:p.Ala178Val
NM_201631.4:c.779C>T MANE Select	NP_963925.2:p.Ala260Val