Canonical Allele Identifier: CA8235214

Gene: GALNS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841897C>T , CM000678.2:g.88841897C>T	GRCh38
NC_000016.9:g.88908305C>T , CM000678.1:g.88908305C>T	GRCh37
NC_000016.8:g.87435806C>T	NCBI36
NG_008667.1:g.20070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.319G>A MANE Select	ENSP00000268695.5:p.Ala107Thr
ENST00000268695.9:c.319G>A	ENSP00000268695.5:p.Ala107Thr
ENST00000562593.5:n.3728G>A
ENST00000562831.1:c.103G>A	ENSP00000455174.1:p.Ala35Thr
ENST00000565364.1:n.454G>A
ENST00000567525.5:c.144G>A	ENSP00000454484.1:p.Thr48=
ENST00000567779.1:n.149G>A
ENST00000568613.5:c.438G>A	ENSP00000457921.1:n.438G>A
NM_000512.4:c.319G>A	NP_000503.1:p.Ala107Thr
XM_005256301.2:c.319G>A	XP_005256358.1:p.Ala107Thr
XM_005256302.1:c.337G>A	XP_005256359.1:p.Ala113Thr
XM_011522982.1:c.337G>A	XP_011521284.1:p.Ala113Thr
XM_011522984.1:c.337G>A	XP_011521286.1:p.Ala113Thr
NM_001323543.1:c.-237G>A	NP_001310472.1:n.-237G>A
NM_001323544.1:c.337G>A	NP_001310473.1:p.Ala113Thr
XM_005256301.3:c.319G>A	XP_005256358.1:p.Ala107Thr
XM_011522982.2:c.337G>A	XP_011521284.1:p.Ala113Thr
XM_017023111.2:c.337G>A	XP_016878600.1:p.Ala113Thr
XM_017023112.2:c.337G>A	XP_016878601.1:p.Ala113Thr
XM_017023113.1:c.-237G>A	XP_016878602.1:n.-237G>A
NM_000512.5:c.319G>A MANE Select	NP_000503.1:p.Ala107Thr
NM_001323543.2:c.-237G>A	NP_001310472.1:n.-237G>A
NM_001323544.2:c.337G>A	NP_001310473.1:p.Ala113Thr