Canonical Allele Identifier: CA392099827

Gene: TGM5

Linked Data

• dbSNP Id: rs1177396133
• gnomAD v3: 15-43252906-T-A
• gnomAD v4: 15-43252906-T-A
• MyVariant Identifiers: chr15:g.43545104T>A (hg19) ; chr15:g.43252906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252906T>A , CM000677.2:g.43252906T>A	GRCh38
NC_000015.9:g.43545104T>A , CM000677.1:g.43545104T>A	GRCh37
NC_000015.8:g.41332396T>A	NCBI36
NG_016124.1:g.18952A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.715A>T MANE Select	ENSP00000220420.5:p.Asn239Tyr
ENST00000635871.1:n.184A>T
ENST00000220420.9:c.715A>T	ENSP00000220420.5:p.Asn239Tyr
ENST00000349114.8:c.469A>T	ENSP00000220419.8:p.Asn157Tyr
ENST00000610827.4:c.712A>T	ENSP00000479732.1:p.Asn238Tyr
ENST00000611276.4:c.466A>T	ENSP00000482542.1:p.Asn156Tyr
ENST00000622115.1:c.718A>T	ENSP00000479638.1:p.Asn240Tyr
NM_004245.3:c.469A>T	NP_004236.1:p.Asn157Tyr
NM_201631.3:c.715A>T	NP_963925.2:p.Asn239Tyr
XM_011522229.1:c.715A>T	XP_011520531.1:p.Asn239Tyr
XR_931948.1:n.889A>T
NM_004245.4:c.469A>T	NP_004236.1:p.Asn157Tyr
NM_201631.4:c.715A>T MANE Select	NP_963925.2:p.Asn239Tyr