Canonical Allele Identifier: CA269976074

Gene: TGM5

Linked Data

• dbSNP Id: rs1036011588
• gnomAD v2: 15-43545754-A-G
• gnomAD v3: 15-43253556-A-G
• gnomAD v4: 15-43253556-A-G
• MyVariant Identifiers: chr15:g.43545754A>G (hg19) ; chr15:g.43253556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253556A>G , CM000677.2:g.43253556A>G	GRCh38
NC_000015.9:g.43545754A>G , CM000677.1:g.43545754A>G	GRCh37
NC_000015.8:g.41333046A>G	NCBI36
NG_016124.1:g.18302T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.634T>C MANE Select	ENSP00000220420.5:p.Cys212Arg
ENST00000635871.1:n.103T>C
ENST00000220420.9:c.634T>C	ENSP00000220420.5:p.Cys212Arg
ENST00000349114.8:c.388T>C	ENSP00000220419.8:p.Cys130Arg
ENST00000610827.4:c.631T>C	ENSP00000479732.1:p.Cys211Arg
ENST00000611276.4:c.385T>C	ENSP00000482542.1:p.Cys129Arg
ENST00000622115.1:c.637T>C	ENSP00000479638.1:p.Cys213Arg
NM_004245.3:c.388T>C	NP_004236.1:p.Cys130Arg
NM_201631.3:c.634T>C	NP_963925.2:p.Cys212Arg
XM_011522229.1:c.634T>C	XP_011520531.1:p.Cys212Arg
XR_931948.1:n.808T>C
NM_004245.4:c.388T>C	NP_004236.1:p.Cys130Arg
NM_201631.4:c.634T>C MANE Select	NP_963925.2:p.Cys212Arg