Canonical Allele Identifier: CA490131719

Gene: TGM5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.640C>T MANE Select	ENSP00000220420.5:p.Leu214=
ENST00000635871.1:n.109C>T
ENST00000220420.9:c.640C>T	ENSP00000220420.5:p.Leu214=
ENST00000349114.8:c.394C>T	ENSP00000220419.8:p.Leu132=
ENST00000610827.4:c.637C>T	ENSP00000479732.1:p.Leu213=
ENST00000611276.4:c.391C>T	ENSP00000482542.1:p.Leu131=
ENST00000622115.1:c.643C>T	ENSP00000479638.1:p.Leu215=
NM_004245.3:c.394C>T	NP_004236.1:p.Leu132=
NM_201631.3:c.640C>T	NP_963925.2:p.Leu214=
XM_011522229.1:c.640C>T	XP_011520531.1:p.Leu214=
XR_931948.1:n.814C>T
NM_004245.4:c.394C>T	NP_004236.1:p.Leu132=
NM_201631.4:c.640C>T MANE Select	NP_963925.2:p.Leu214=