Canonical Allele Identifier: CA490131542

Gene: TGM5

Linked Data

• dbSNP Id: rs1422133611
• gnomAD v2: 15-43545102-A-G
• gnomAD v4: 15-43252904-A-G
• MyVariant Identifiers: chr15:g.43545102A>G (hg19) ; chr15:g.43252904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252904A>G , CM000677.2:g.43252904A>G	GRCh38
NC_000015.9:g.43545102A>G , CM000677.1:g.43545102A>G	GRCh37
NC_000015.8:g.41332394A>G	NCBI36
NG_016124.1:g.18954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.717T>C MANE Select	ENSP00000220420.5:p.Asn239=
ENST00000635871.1:n.186T>C
ENST00000220420.9:c.717T>C	ENSP00000220420.5:p.Asn239=
ENST00000349114.8:c.471T>C	ENSP00000220419.8:p.Asn157=
ENST00000610827.4:c.714T>C	ENSP00000479732.1:p.Asn238=
ENST00000611276.4:c.468T>C	ENSP00000482542.1:p.Asn156=
ENST00000622115.1:c.720T>C	ENSP00000479638.1:p.Asn240=
NM_004245.3:c.471T>C	NP_004236.1:p.Asn157=
NM_201631.3:c.717T>C	NP_963925.2:p.Asn239=
XM_011522229.1:c.717T>C	XP_011520531.1:p.Asn239=
XR_931948.1:n.891T>C
NM_004245.4:c.471T>C	NP_004236.1:p.Asn157=
NM_201631.4:c.717T>C MANE Select	NP_963925.2:p.Asn239=