Canonical Allele Identifier: CA392099696

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252893-C-T
• MyVariant Identifiers: chr15:g.43545091C>T (hg19) ; chr15:g.43252893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252893C>T , CM000677.2:g.43252893C>T	GRCh38
NC_000015.9:g.43545091C>T , CM000677.1:g.43545091C>T	GRCh37
NC_000015.8:g.41332383C>T	NCBI36
NG_016124.1:g.18965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.728G>A MANE Select	ENSP00000220420.5:p.Ser243Asn
ENST00000635871.1:n.197G>A
ENST00000220420.9:c.728G>A	ENSP00000220420.5:p.Ser243Asn
ENST00000349114.8:c.482G>A	ENSP00000220419.8:p.Ser161Asn
ENST00000610827.4:c.725G>A	ENSP00000479732.1:p.Ser242Asn
ENST00000611276.4:c.479G>A	ENSP00000482542.1:p.Ser160Asn
ENST00000622115.1:c.731G>A	ENSP00000479638.1:p.Ser244Asn
NM_004245.3:c.482G>A	NP_004236.1:p.Ser161Asn
NM_201631.3:c.728G>A	NP_963925.2:p.Ser243Asn
XM_011522229.1:c.728G>A	XP_011520531.1:p.Ser243Asn
XR_931948.1:n.902G>A
NM_004245.4:c.482G>A	NP_004236.1:p.Ser161Asn
NM_201631.4:c.728G>A MANE Select	NP_963925.2:p.Ser243Asn