Canonical Allele Identifier: CA490131737

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253563-G-A
• MyVariant Identifiers: chr15:g.43545761G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253563G>A , CM000677.2:g.43253563G>A	GRCh38
NC_000015.9:g.43545761G>A , CM000677.1:g.43545761G>A	GRCh37
NC_000015.8:g.41333053G>A	NCBI36
NG_016124.1:g.18295C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.627C>T MANE Select	ENSP00000220420.5:p.Ala209=
ENST00000635871.1:n.96C>T
ENST00000220420.9:c.627C>T	ENSP00000220420.5:p.Ala209=
ENST00000349114.8:c.381C>T	ENSP00000220419.8:p.Ala127=
ENST00000610827.4:c.624C>T	ENSP00000479732.1:p.Ala208=
ENST00000611276.4:c.378C>T	ENSP00000482542.1:p.Ala126=
ENST00000622115.1:c.630C>T	ENSP00000479638.1:p.Ala210=
NM_004245.3:c.381C>T	NP_004236.1:p.Ala127=
NM_201631.3:c.627C>T	NP_963925.2:p.Ala209=
XM_011522229.1:c.627C>T	XP_011520531.1:p.Ala209=
XR_931948.1:n.801C>T
NM_004245.4:c.381C>T	NP_004236.1:p.Ala127=
NM_201631.4:c.627C>T MANE Select	NP_963925.2:p.Ala209=