Canonical Allele Identifier: CA392099919

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545116T>A (hg19) ; chr15:g.43252918T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252918T>A , CM000677.2:g.43252918T>A	GRCh38
NC_000015.9:g.43545116T>A , CM000677.1:g.43545116T>A	GRCh37
NC_000015.8:g.41332408T>A	NCBI36
NG_016124.1:g.18940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.703A>T MANE Select	ENSP00000220420.5:p.Asn235Tyr
ENST00000635871.1:n.172A>T
ENST00000220420.9:c.703A>T	ENSP00000220420.5:p.Asn235Tyr
ENST00000349114.8:c.457A>T	ENSP00000220419.8:p.Asn153Tyr
ENST00000610827.4:c.700A>T	ENSP00000479732.1:p.Asn234Tyr
ENST00000611276.4:c.454A>T	ENSP00000482542.1:p.Asn152Tyr
ENST00000622115.1:c.706A>T	ENSP00000479638.1:p.Asn236Tyr
NM_004245.3:c.457A>T	NP_004236.1:p.Asn153Tyr
NM_201631.3:c.703A>T	NP_963925.2:p.Asn235Tyr
XM_011522229.1:c.703A>T	XP_011520531.1:p.Asn235Tyr
XR_931948.1:n.877A>T
NM_004245.4:c.457A>T	NP_004236.1:p.Asn153Tyr
NM_201631.4:c.703A>T MANE Select	NP_963925.2:p.Asn235Tyr