Canonical Allele Identifier: CA269976072

Gene: TGM5

Linked Data

• dbSNP Id: rs939667921
• gnomAD v2: 15-43545753-C-T
• gnomAD v4: 15-43253555-C-T
• MyVariant Identifiers: chr15:g.43545753C>T (hg19) ; chr15:g.43253555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253555C>T , CM000677.2:g.43253555C>T	GRCh38
NC_000015.9:g.43545753C>T , CM000677.1:g.43545753C>T	GRCh37
NC_000015.8:g.41333045C>T	NCBI36
NG_016124.1:g.18303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.635G>A MANE Select	ENSP00000220420.5:p.Cys212Tyr
ENST00000635871.1:n.104G>A
ENST00000220420.9:c.635G>A	ENSP00000220420.5:p.Cys212Tyr
ENST00000349114.8:c.389G>A	ENSP00000220419.8:p.Cys130Tyr
ENST00000610827.4:c.632G>A	ENSP00000479732.1:p.Cys211Tyr
ENST00000611276.4:c.386G>A	ENSP00000482542.1:p.Cys129Tyr
ENST00000622115.1:c.638G>A	ENSP00000479638.1:p.Cys213Tyr
NM_004245.3:c.389G>A	NP_004236.1:p.Cys130Tyr
NM_201631.3:c.635G>A	NP_963925.2:p.Cys212Tyr
XM_011522229.1:c.635G>A	XP_011520531.1:p.Cys212Tyr
XR_931948.1:n.809G>A
NM_004245.4:c.389G>A	NP_004236.1:p.Cys130Tyr
NM_201631.4:c.635G>A MANE Select	NP_963925.2:p.Cys212Tyr