Canonical Allele Identifier: CA7521232

Gene: TGM5

Linked Data

• dbSNP Id: rs767145906
• ExAC: 15:43545127 C / T
• gnomAD v2: 15-43545127-C-T
• gnomAD v4: 15-43252929-C-T
• MyVariant Identifiers: chr15:g.43545127C>T (hg19) ; chr15:g.43252929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252929C>T , CM000677.2:g.43252929C>T	GRCh38
NC_000015.9:g.43545127C>T , CM000677.1:g.43545127C>T	GRCh37
NC_000015.8:g.41332419C>T	NCBI36
NG_016124.1:g.18929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.692G>A MANE Select	ENSP00000220420.5:p.Ser231Asn
ENST00000635871.1:n.161G>A
ENST00000220420.9:c.692G>A	ENSP00000220420.5:p.Ser231Asn
ENST00000349114.8:c.446G>A	ENSP00000220419.8:p.Ser149Asn
ENST00000610827.4:c.689G>A	ENSP00000479732.1:p.Ser230Asn
ENST00000611276.4:c.443G>A	ENSP00000482542.1:p.Ser148Asn
ENST00000622115.1:c.695G>A	ENSP00000479638.1:p.Ser232Asn
NM_004245.3:c.446G>A	NP_004236.1:p.Ser149Asn
NM_201631.3:c.692G>A	NP_963925.2:p.Ser231Asn
XM_011522229.1:c.692G>A	XP_011520531.1:p.Ser231Asn
XR_931948.1:n.866G>A
NM_004245.4:c.446G>A	NP_004236.1:p.Ser149Asn
NM_201631.4:c.692G>A MANE Select	NP_963925.2:p.Ser231Asn