Canonical Allele Identifier: CA397075970
Gene: GALNS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88835233A>C , CM000678.2:g.88835233A>C GRCh38
NC_000016.9:g.88901641A>C , CM000678.1:g.88901641A>C GRCh37
NC_000016.8:g.87429142A>C NCBI36
NG_008667.1:g.26734T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268695.10:c.878T>G MANE Select ENSP00000268695.5:p.Leu293Arg
ENST00000268695.9:c.878T>G ENSP00000268695.5:p.Leu293Arg
ENST00000562593.5:n.4287T>G
ENST00000562931.5:n.466T>G
ENST00000567525.5:c.559T>G ENSP00000454484.1:n.559T>G
ENST00000568613.5:c.997T>G ENSP00000457921.1:n.997T>G
NM_000512.4:c.878T>G NP_000503.1:p.Leu293Arg
XM_005256301.2:c.878T>G XP_005256358.1:p.Leu293Arg
XM_005256302.1:c.896T>G XP_005256359.1:p.Leu299Arg
XM_011522982.1:c.896T>G XP_011521284.1:p.Leu299Arg
XM_011522984.1:c.896T>G XP_011521286.1:p.Leu299Arg
NM_001323543.1:c.323T>G NP_001310472.1:p.Leu108Arg
NM_001323544.1:c.896T>G NP_001310473.1:p.Leu299Arg
XM_005256301.3:c.878T>G XP_005256358.1:p.Leu293Arg
XM_011522982.2:c.896T>G XP_011521284.1:p.Leu299Arg
XM_017023111.2:c.896T>G XP_016878600.1:p.Leu299Arg
XM_017023112.2:c.896T>G XP_016878601.1:p.Leu299Arg
XM_017023113.1:c.323T>G XP_016878602.1:p.Leu108Arg
NM_000512.5:c.878T>G MANE Select NP_000503.1:p.Leu293Arg
NM_001323543.2:c.323T>G NP_001310472.1:p.Leu108Arg
NM_001323544.2:c.896T>G NP_001310473.1:p.Leu299Arg