Canonical Allele Identifier: CA490131444

Gene: TGM5

Linked Data

• dbSNP Id: rs1418432944
• gnomAD v2: 15-43544979-G-C
• gnomAD v4: 15-43252781-G-C
• MyVariant Identifiers: chr15:g.43544979G>C (hg19) ; chr15:g.43252781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252781G>C , CM000677.2:g.43252781G>C	GRCh38
NC_000015.9:g.43544979G>C , CM000677.1:g.43544979G>C	GRCh37
NC_000015.8:g.41332271G>C	NCBI36
NG_016124.1:g.19077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.840C>G MANE Select	ENSP00000220420.5:p.Val280=
ENST00000635871.1:n.309C>G
ENST00000220420.9:c.840C>G	ENSP00000220420.5:p.Val280=
ENST00000349114.8:c.594C>G	ENSP00000220419.8:p.Val198=
ENST00000610827.4:c.837C>G	ENSP00000479732.1:p.Val279=
ENST00000611276.4:c.591C>G	ENSP00000482542.1:p.Val197=
ENST00000622115.1:c.843C>G	ENSP00000479638.1:p.Val281=
NM_004245.3:c.594C>G	NP_004236.1:p.Val198=
NM_201631.3:c.840C>G	NP_963925.2:p.Val280=
XM_011522229.1:c.840C>G	XP_011520531.1:p.Val280=
XR_931948.1:n.1014C>G
NM_004245.4:c.594C>G	NP_004236.1:p.Val198=
NM_201631.4:c.840C>G MANE Select	NP_963925.2:p.Val280=