Canonical Allele Identifier: CA392098828

Gene: TGM5

Linked Data

• dbSNP Id: rs2042713820
• gnomAD v3: 15-43252765-A-C
• gnomAD v4: 15-43252765-A-C
• COSMIC: COSM1678401
• MyVariant Identifiers: chr15:g.43544963A>C (hg19) ; chr15:g.43252765A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252765A>C , CM000677.2:g.43252765A>C	GRCh38
NC_000015.9:g.43544963A>C , CM000677.1:g.43544963A>C	GRCh37
NC_000015.8:g.41332255A>C	NCBI36
NG_016124.1:g.19093T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.856T>G MANE Select	ENSP00000220420.5:p.Cys286Gly
ENST00000635871.1:n.325T>G
ENST00000220420.9:c.856T>G	ENSP00000220420.5:p.Cys286Gly
ENST00000349114.8:c.610T>G	ENSP00000220419.8:p.Cys204Gly
ENST00000610827.4:c.853T>G	ENSP00000479732.1:p.Cys285Gly
ENST00000611276.4:c.607T>G	ENSP00000482542.1:p.Cys203Gly
ENST00000622115.1:c.859T>G	ENSP00000479638.1:p.Cys287Gly
NM_004245.3:c.610T>G	NP_004236.1:p.Cys204Gly
NM_201631.3:c.856T>G	NP_963925.2:p.Cys286Gly
XM_011522229.1:c.856T>G	XP_011520531.1:p.Cys286Gly
XR_931948.1:n.1030T>G
NM_004245.4:c.610T>G	NP_004236.1:p.Cys204Gly
NM_201631.4:c.856T>G MANE Select	NP_963925.2:p.Cys286Gly