Canonical Allele Identifier: CA392099615

Gene: TGM5

Linked Data

• dbSNP Id: rs1456061286
• gnomAD v2: 15-43545082-T-C
• gnomAD v3: 15-43252884-T-C
• gnomAD v4: 15-43252884-T-C
• MyVariant Identifiers: chr15:g.43545082T>C (hg19) ; chr15:g.43252884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252884T>C , CM000677.2:g.43252884T>C	GRCh38
NC_000015.9:g.43545082T>C , CM000677.1:g.43545082T>C	GRCh37
NC_000015.8:g.41332374T>C	NCBI36
NG_016124.1:g.18974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.737A>G MANE Select	ENSP00000220420.5:p.Tyr246Cys
ENST00000635871.1:n.206A>G
ENST00000220420.9:c.737A>G	ENSP00000220420.5:p.Tyr246Cys
ENST00000349114.8:c.491A>G	ENSP00000220419.8:p.Tyr164Cys
ENST00000610827.4:c.734A>G	ENSP00000479732.1:p.Tyr245Cys
ENST00000611276.4:c.488A>G	ENSP00000482542.1:p.Tyr163Cys
ENST00000622115.1:c.740A>G	ENSP00000479638.1:p.Tyr247Cys
NM_004245.3:c.491A>G	NP_004236.1:p.Tyr164Cys
NM_201631.3:c.737A>G	NP_963925.2:p.Tyr246Cys
XM_011522229.1:c.737A>G	XP_011520531.1:p.Tyr246Cys
XR_931948.1:n.911A>G
NM_004245.4:c.491A>G	NP_004236.1:p.Tyr164Cys
NM_201631.4:c.737A>G MANE Select	NP_963925.2:p.Tyr246Cys