Canonical Allele Identifier: CA397076672

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835320C>T , CM000678.2:g.88835320C>T	GRCh38
NC_000016.9:g.88901728C>T , CM000678.1:g.88901728C>T	GRCh37
NC_000016.8:g.87429229C>T	NCBI36
NG_008667.1:g.26647G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.791G>A MANE Select	NP_000503.1:p.Ser264Asn
ENST00000268695.10:c.791G>A MANE Select	ENSP00000268695.5:p.Ser264Asn
NM_000512.4:c.791G>A	NP_000503.1:p.Ser264Asn
NM_001323543.1:c.236G>A	NP_001310472.1:p.Ser79Asn
NM_001323543.2:c.236G>A	NP_001310472.1:p.Ser79Asn
NM_001323544.1:c.809G>A	NP_001310473.1:p.Ser270Asn
NM_001323544.2:c.809G>A	NP_001310473.1:p.Ser270Asn
ENST00000268695.9:c.791G>A	ENSP00000268695.5:p.Ser264Asn
ENST00000562593.5:n.4200G>A
ENST00000562931.5:n.379G>A
ENST00000567525.5:c.472G>A	ENSP00000454484.1:n.472G>A
ENST00000568613.5:c.910G>A	ENSP00000457921.1:n.910G>A
XM_005256301.2:c.791G>A	XP_005256358.1:p.Ser264Asn
XM_005256301.3:c.791G>A	XP_005256358.1:p.Ser264Asn
XM_005256302.1:c.809G>A	XP_005256359.1:p.Ser270Asn
XM_011522982.1:c.809G>A	XP_011521284.1:p.Ser270Asn
XM_011522982.2:c.809G>A	XP_011521284.1:p.Ser270Asn
XM_011522984.1:c.809G>A	XP_011521286.1:p.Ser270Asn
XM_017023111.2:c.809G>A	XP_016878600.1:p.Ser270Asn
XM_017023112.2:c.809G>A	XP_016878601.1:p.Ser270Asn
XM_017023113.1:c.236G>A	XP_016878602.1:p.Ser79Asn