Canonical Allele Identifier: CA397091424

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88842737G>T , CM000678.2:g.88842737G>T	GRCh38
NC_000016.9:g.88909145G>T , CM000678.1:g.88909145G>T	GRCh37
NC_000016.8:g.87436646G>T	NCBI36
NG_008667.1:g.19230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.213C>A MANE Select	ENSP00000268695.5:p.Asn71Lys
ENST00000268695.9:c.213C>A	ENSP00000268695.5:p.Asn71Lys
ENST00000562593.5:n.2888C>A
ENST00000562831.1:c.29-766C>A	ENSP00000455174.1:n.29-766C>A
ENST00000565364.1:n.348C>A
ENST00000567525.5:c.70-766C>A	ENSP00000454484.1:n.70-766C>A
ENST00000568613.5:c.332C>A	ENSP00000457921.1:n.332C>A
NM_000512.4:c.213C>A	NP_000503.1:p.Asn71Lys
XM_005256301.2:c.213C>A	XP_005256358.1:p.Asn71Lys
XM_005256302.1:c.231C>A	XP_005256359.1:p.Asn77Lys
XM_011522982.1:c.231C>A	XP_011521284.1:p.Asn77Lys
XM_011522984.1:c.231C>A	XP_011521286.1:p.Asn77Lys
NM_001323543.1:c.-311-766C>A	NP_001310472.1:n.-311-766C>A
NM_001323544.1:c.231C>A	NP_001310473.1:p.Asn77Lys
XM_005256301.3:c.213C>A	XP_005256358.1:p.Asn71Lys
XM_011522982.2:c.231C>A	XP_011521284.1:p.Asn77Lys
XM_017023111.2:c.231C>A	XP_016878600.1:p.Asn77Lys
XM_017023112.2:c.231C>A	XP_016878601.1:p.Asn77Lys
XM_017023113.1:c.-311-766C>A	XP_016878602.1:n.-311-766C>A
NM_000512.5:c.213C>A MANE Select	NP_000503.1:p.Asn71Lys
NM_001323543.2:c.-311-766C>A	NP_001310472.1:n.-311-766C>A
NM_001323544.2:c.231C>A	NP_001310473.1:p.Asn77Lys