Canonical Allele Identifier: CA490132331

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43552350C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43260152C>A , CM000677.2:g.43260152C>A	GRCh38
NC_000015.9:g.43552350C>A , CM000677.1:g.43552350C>A	GRCh37
NC_000015.8:g.41339642C>A	NCBI36
NG_016124.1:g.11706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.336G>T MANE Select	ENSP00000220420.5:p.Val112=
ENST00000220420.9:c.336G>T	ENSP00000220420.5:p.Val112=
ENST00000349114.8:c.190+248G>T	ENSP00000220419.8:n.190+248G>T
ENST00000610827.4:c.333G>T	ENSP00000479732.1:p.Val111=
ENST00000611276.4:c.187+248G>T	ENSP00000482542.1:n.187+248G>T
ENST00000622115.1:c.339G>T	ENSP00000479638.1:p.Val113=
NM_004245.3:c.190+248G>T	NP_004236.1:n.190+248G>T
NM_201631.3:c.336G>T	NP_963925.2:p.Val112=
XM_011522229.1:c.336G>T	XP_011520531.1:p.Val112=
XR_931948.1:n.510G>T
NM_004245.4:c.190+248G>T	NP_004236.1:n.190+248G>T
NM_201631.4:c.336G>T MANE Select	NP_963925.2:p.Val112=