Canonical Allele Identifier: CA392099211

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545030C>G (hg19) ; chr15:g.43252832C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252832C>G , CM000677.2:g.43252832C>G	GRCh38
NC_000015.9:g.43545030C>G , CM000677.1:g.43545030C>G	GRCh37
NC_000015.8:g.41332322C>G	NCBI36
NG_016124.1:g.19026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.789G>C MANE Select	ENSP00000220420.5:p.Lys263Asn
ENST00000635871.1:n.258G>C
ENST00000220420.9:c.789G>C	ENSP00000220420.5:p.Lys263Asn
ENST00000349114.8:c.543G>C	ENSP00000220419.8:p.Lys181Asn
ENST00000610827.4:c.786G>C	ENSP00000479732.1:p.Lys262Asn
ENST00000611276.4:c.540G>C	ENSP00000482542.1:p.Lys180Asn
ENST00000622115.1:c.792G>C	ENSP00000479638.1:p.Lys264Asn
NM_004245.3:c.543G>C	NP_004236.1:p.Lys181Asn
NM_201631.3:c.789G>C	NP_963925.2:p.Lys263Asn
XM_011522229.1:c.789G>C	XP_011520531.1:p.Lys263Asn
XR_931948.1:n.963G>C
NM_004245.4:c.543G>C	NP_004236.1:p.Lys181Asn
NM_201631.4:c.789G>C MANE Select	NP_963925.2:p.Lys263Asn