Canonical Allele Identifier: CA2241324565
Gene: GALNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835282C= , CM000678.2:g.88835282C= GRCh38
NC_000016.9:g.88901690C= , CM000678.1:g.88901690C= GRCh37
NC_000016.8:g.87429191C= NCBI36
NG_008667.1:g.26685G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.829G= MANE Select ENSP00000268695.5:p.Val277=
ENST00000268695.9:c.829G= ENSP00000268695.5:p.Val277=
ENST00000562593.5:n.4238G=
ENST00000562931.5:n.417G=
ENST00000567525.5:c.510G= ENSP00000454484.1:n.510G=
ENST00000568613.5:c.948G= ENSP00000457921.1:n.948G=
NM_000512.4:c.829G= NP_000503.1:p.Val277=
XM_005256301.2:c.829G= XP_005256358.1:p.Val277=
XM_005256302.1:c.847G= XP_005256359.1:p.Val283=
XM_011522982.1:c.847G= XP_011521284.1:p.Val283=
XM_011522984.1:c.847G= XP_011521286.1:p.Val283=
NM_001323543.1:c.274G= NP_001310472.1:p.Val92=
NM_001323544.1:c.847G= NP_001310473.1:p.Val283=
XM_005256301.3:c.829G= XP_005256358.1:p.Val277=
XM_011522982.2:c.847G= XP_011521284.1:p.Val283=
XM_017023111.2:c.847G= XP_016878600.1:p.Val283=
XM_017023112.2:c.847G= XP_016878601.1:p.Val283=
XM_017023113.1:c.274G= XP_016878602.1:p.Val92=
NM_000512.5:c.829G= MANE Select NP_000503.1:p.Val277=
NM_001323543.2:c.274G= NP_001310472.1:p.Val92=
NM_001323544.2:c.847G= NP_001310473.1:p.Val283=