Canonical Allele Identifier: CA8235025

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835783C>A , CM000678.2:g.88835783C>A	GRCh38
NC_000016.9:g.88902191C>A , CM000678.1:g.88902191C>A	GRCh37
NC_000016.8:g.87429692C>A	NCBI36
NG_008667.1:g.26184G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.700G>T MANE Select	NP_000503.1:p.Ala234Ser
ENST00000268695.10:c.700G>T MANE Select	ENSP00000268695.5:p.Ala234Ser
NM_000512.4:c.700G>T	NP_000503.1:p.Ala234Ser
NM_001323543.1:c.145G>T	NP_001310472.1:p.Ala49Ser
NM_001323543.2:c.145G>T	NP_001310472.1:p.Ala49Ser
NM_001323544.1:c.718G>T	NP_001310473.1:p.Ala240Ser
NM_001323544.2:c.718G>T	NP_001310473.1:p.Ala240Ser
ENST00000268695.9:c.700G>T	ENSP00000268695.5:p.Ala234Ser
ENST00000562593.5:n.4109G>T
ENST00000562831.1:c.484G>T	ENSP00000455174.1:p.Ala162Ser
ENST00000562931.5:n.288G>T
ENST00000566563.1:n.402G>T
ENST00000567525.5:c.381G>T	ENSP00000454484.1:n.381G>T
ENST00000568613.5:c.819G>T	ENSP00000457921.1:n.819G>T
XM_005256301.2:c.700G>T	XP_005256358.1:p.Ala234Ser
XM_005256301.3:c.700G>T	XP_005256358.1:p.Ala234Ser
XM_005256302.1:c.718G>T	XP_005256359.1:p.Ala240Ser
XM_011522982.1:c.718G>T	XP_011521284.1:p.Ala240Ser
XM_011522982.2:c.718G>T	XP_011521284.1:p.Ala240Ser
XM_011522984.1:c.718G>T	XP_011521286.1:p.Ala240Ser
XM_017023111.2:c.718G>T	XP_016878600.1:p.Ala240Ser
XM_017023112.2:c.718G>T	XP_016878601.1:p.Ala240Ser
XM_017023113.1:c.145G>T	XP_016878602.1:p.Ala49Ser