Canonical Allele Identifier: CA914139084

Gene: GALNS

Linked Data

• dbSNP Id: rs1912091563
• gnomAD v2: 16-88902391-T-TTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA
• gnomAD v3: 16-88835983-T-TTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA
• gnomAD v4: 16-88835983-T-TTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88836023_88836062dup , CM000678.2:g.88836023_88836062dup	GRCh38
NC_000016.9:g.88902431_88902470dup , CM000678.1:g.88902431_88902470dup	GRCh37
NC_000016.8:g.87429932_87429971dup	NCBI36
NG_008667.1:g.25944_25983dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.634-174_634-135dup MANE Select	ENSP00000268695.5:n.634-174_634-135dup
ENST00000268695.9:c.634-174_634-135dup	ENSP00000268695.5:n.634-174_634-135dup
ENST00000562593.5:n.4043-174_4043-135dup
ENST00000562831.1:c.418-174_418-135dup	ENSP00000455174.1:n.418-174_418-135dup
ENST00000562931.5:n.222-174_222-135dup
ENST00000566563.1:n.336-174_336-135dup
ENST00000567525.5:c.315-174_315-135dup	ENSP00000454484.1:n.315-174_315-135dup
ENST00000568613.5:c.753-174_753-135dup	ENSP00000457921.1:n.753-174_753-135dup
NM_000512.4:c.634-174_634-135dup	NP_000503.1:n.634-174_634-135dup
XM_005256301.2:c.634-174_634-135dup	XP_005256358.1:n.634-174_634-135dup
XM_005256302.1:c.652-174_652-135dup	XP_005256359.1:n.652-174_652-135dup
XM_011522982.1:c.652-174_652-135dup	XP_011521284.1:n.652-174_652-135dup
XM_011522984.1:c.652-174_652-135dup	XP_011521286.1:n.652-174_652-135dup
NM_001323543.1:c.79-174_79-135dup	NP_001310472.1:n.79-174_79-135dup
NM_001323544.1:c.652-174_652-135dup	NP_001310473.1:n.652-174_652-135dup
XM_005256301.3:c.634-174_634-135dup	XP_005256358.1:n.634-174_634-135dup
XM_011522982.2:c.652-174_652-135dup	XP_011521284.1:n.652-174_652-135dup
XM_017023111.2:c.652-174_652-135dup	XP_016878600.1:n.652-174_652-135dup
XM_017023112.2:c.652-174_652-135dup	XP_016878601.1:n.652-174_652-135dup
XM_017023113.1:c.79-174_79-135dup	XP_016878602.1:n.79-174_79-135dup
NM_000512.5:c.634-174_634-135dup MANE Select	NP_000503.1:n.634-174_634-135dup
NM_001323543.2:c.79-174_79-135dup	NP_001310472.1:n.79-174_79-135dup
NM_001323544.2:c.652-174_652-135dup	NP_001310473.1:n.652-174_652-135dup