Canonical Allele Identifier: CA7521279

Gene: TGM5

Linked Data

• dbSNP Id: rs751828649
• ExAC: 15:43545748 G / T
• gnomAD v2: 15-43545748-G-T
• gnomAD v4: 15-43253550-G-T
• MyVariant Identifiers: chr15:g.43545748G>T (hg19) ; chr15:g.43253550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253550G>T , CM000677.2:g.43253550G>T	GRCh38
NC_000015.9:g.43545748G>T , CM000677.1:g.43545748G>T	GRCh37
NC_000015.8:g.41333040G>T	NCBI36
NG_016124.1:g.18308C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.640C>A MANE Select	ENSP00000220420.5:p.Leu214Met
ENST00000635871.1:n.109C>A
ENST00000220420.9:c.640C>A	ENSP00000220420.5:p.Leu214Met
ENST00000349114.8:c.394C>A	ENSP00000220419.8:p.Leu132Met
ENST00000610827.4:c.637C>A	ENSP00000479732.1:p.Leu213Met
ENST00000611276.4:c.391C>A	ENSP00000482542.1:p.Leu131Met
ENST00000622115.1:c.643C>A	ENSP00000479638.1:p.Leu215Met
NM_004245.3:c.394C>A	NP_004236.1:p.Leu132Met
NM_201631.3:c.640C>A	NP_963925.2:p.Leu214Met
XM_011522229.1:c.640C>A	XP_011520531.1:p.Leu214Met
XR_931948.1:n.814C>A
NM_004245.4:c.394C>A	NP_004236.1:p.Leu132Met
NM_201631.4:c.640C>A MANE Select	NP_963925.2:p.Leu214Met