Canonical Allele Identifier: CA175045

Gene: TGDS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94590868C>A , CM000675.2:g.94590868C>A	GRCh38
NC_000013.10:g.95243122C>A , CM000675.1:g.95243122C>A	GRCh37
NC_000013.9:g.94041123C>A	NCBI36
NG_041837.1:g.10408G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014305.4:c.298G>T MANE Select	NP_055120.1:p.Ala100Ser
ENST00000261296.7:c.298G>T MANE Select	ENSP00000261296.5:p.Ala100Ser
NM_001304430.1:c.202G>T	NP_001291359.1:p.Ala68Ser
NM_001304430.2:c.202G>T	NP_001291359.1:p.Ala68Ser
NM_014305.3:c.298G>T	NP_055120.1:p.Ala100Ser
NR_130731.1:n.437G>T
NR_130731.2:n.314G>T
NR_130732.1:n.361+1373G>T
NR_130732.2:n.238+1373G>T
ENST00000261296.6:c.298G>T	ENSP00000261296.5:p.Ala100Ser
ENST00000498294.5:n.480G>T
XM_011521065.1:c.202G>T	XP_011519367.1:p.Ala68Ser
XM_011521065.2:c.202G>T	XP_011519367.1:p.Ala68Ser
XM_011521066.1:c.202G>T	XP_011519368.1:p.Ala68Ser
XM_011521066.2:c.202G>T	XP_011519368.1:p.Ala68Ser