Canonical Allele Identifier: CA8235126

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837697T>C , CM000678.2:g.88837697T>C	GRCh38
NC_000016.9:g.88904105T>C , CM000678.1:g.88904105T>C	GRCh37
NC_000016.8:g.87431606T>C	NCBI36
NG_008667.1:g.24270A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.491A>G MANE Select	NP_000503.1:p.Asn164Ser
ENST00000268695.10:c.491A>G MANE Select	ENSP00000268695.5:p.Asn164Ser
NM_000512.4:c.491A>G	NP_000503.1:p.Asn164Ser
NM_001323543.1:c.-65A>G	NP_001310472.1:n.-65A>G
NM_001323543.2:c.-65A>G	NP_001310472.1:n.-65A>G
NM_001323544.1:c.509A>G	NP_001310473.1:p.Asn170Ser
NM_001323544.2:c.509A>G	NP_001310473.1:p.Asn170Ser
ENST00000268695.9:c.491A>G	ENSP00000268695.5:p.Asn164Ser
ENST00000561812.1:n.447A>G
ENST00000562593.5:n.3900A>G
ENST00000562831.1:c.275A>G	ENSP00000455174.1:p.Asn92Ser
ENST00000562931.5:n.79A>G
ENST00000566563.1:n.193A>G
ENST00000567525.5:c.248-1430A>G	ENSP00000454484.1:n.248-1430A>G
ENST00000568613.5:c.610A>G	ENSP00000457921.1:n.610A>G
XM_005256301.2:c.491A>G	XP_005256358.1:p.Asn164Ser
XM_005256301.3:c.491A>G	XP_005256358.1:p.Asn164Ser
XM_005256302.1:c.509A>G	XP_005256359.1:p.Asn170Ser
XM_011522982.1:c.509A>G	XP_011521284.1:p.Asn170Ser
XM_011522982.2:c.509A>G	XP_011521284.1:p.Asn170Ser
XM_011522984.1:c.509A>G	XP_011521286.1:p.Asn170Ser
XM_017023111.2:c.509A>G	XP_016878600.1:p.Asn170Ser
XM_017023112.2:c.509A>G	XP_016878601.1:p.Asn170Ser
XM_017023113.1:c.-65A>G	XP_016878602.1:n.-65A>G