Canonical Allele Identifier: CA175047

Gene: TGDS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94590897T>C , CM000675.2:g.94590897T>C	GRCh38
NC_000013.10:g.95243151T>C , CM000675.1:g.95243151T>C	GRCh37
NC_000013.9:g.94041152T>C	NCBI36
NG_041837.1:g.10379A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014305.4:c.269A>G MANE Select	NP_055120.1:p.Glu90Gly
ENST00000261296.7:c.269A>G MANE Select	ENSP00000261296.5:p.Glu90Gly
NM_001304430.1:c.173A>G	NP_001291359.1:p.Glu58Gly
NM_001304430.2:c.173A>G	NP_001291359.1:p.Glu58Gly
NM_014305.3:c.269A>G	NP_055120.1:p.Glu90Gly
NR_130731.1:n.408A>G
NR_130731.2:n.285A>G
NR_130732.1:n.361+1344A>G
NR_130732.2:n.238+1344A>G
ENST00000261296.6:c.269A>G	ENSP00000261296.5:p.Glu90Gly
ENST00000498294.5:n.451A>G
XM_011521065.1:c.173A>G	XP_011519367.1:p.Glu58Gly
XM_011521065.2:c.173A>G	XP_011519367.1:p.Glu58Gly
XM_011521066.1:c.173A>G	XP_011519368.1:p.Glu58Gly
XM_011521066.2:c.173A>G	XP_011519368.1:p.Glu58Gly