Canonical Allele Identifier: CA980348988

Gene: GALNS

Linked Data

• dbSNP Id: rs1912024605
• gnomAD v3: 16-88835479-G-GCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGA
• gnomAD v4: 16-88835479-G-GCCGGCCTCTTCCCAGAAGAGGAATGGCCTCAGTTCAAGTTCATGTGGCTTATGAAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835481_88835538dup , CM000678.2:g.88835481_88835538dup	GRCh38
NC_000016.9:g.88901889_88901946dup , CM000678.1:g.88901889_88901946dup	GRCh37
NC_000016.8:g.87429390_87429447dup	NCBI36
NG_008667.1:g.26430_26487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.759-185_759-128dup MANE Select	ENSP00000268695.5:n.759-185_759-128dup
ENST00000268695.9:c.759-185_759-128dup	ENSP00000268695.5:n.759-185_759-128dup
ENST00000562593.5:n.4168-185_4168-128dup
ENST00000562931.5:n.347-185_347-128dup
ENST00000567525.5:c.440-185_440-128dup	ENSP00000454484.1:n.440-185_440-128dup
ENST00000568613.5:c.878-185_878-128dup	ENSP00000457921.1:n.878-185_878-128dup
NM_000512.4:c.759-185_759-128dup	NP_000503.1:n.759-185_759-128dup
XM_005256301.2:c.759-185_759-128dup	XP_005256358.1:n.759-185_759-128dup
XM_005256302.1:c.777-185_777-128dup	XP_005256359.1:n.777-185_777-128dup
XM_011522982.1:c.777-185_777-128dup	XP_011521284.1:n.777-185_777-128dup
XM_011522984.1:c.777-185_777-128dup	XP_011521286.1:n.777-185_777-128dup
NM_001323543.1:c.204-185_204-128dup	NP_001310472.1:n.204-185_204-128dup
NM_001323544.1:c.777-185_777-128dup	NP_001310473.1:n.777-185_777-128dup
XM_005256301.3:c.759-185_759-128dup	XP_005256358.1:n.759-185_759-128dup
XM_011522982.2:c.777-185_777-128dup	XP_011521284.1:n.777-185_777-128dup
XM_017023111.2:c.777-185_777-128dup	XP_016878600.1:n.777-185_777-128dup
XM_017023112.2:c.777-185_777-128dup	XP_016878601.1:n.777-185_777-128dup
XM_017023113.1:c.204-185_204-128dup	XP_016878602.1:n.204-185_204-128dup
NM_000512.5:c.759-185_759-128dup MANE Select	NP_000503.1:n.759-185_759-128dup
NM_001323543.2:c.204-185_204-128dup	NP_001310472.1:n.204-185_204-128dup
NM_001323544.2:c.777-185_777-128dup	NP_001310473.1:n.777-185_777-128dup