Canonical Allele Identifier: CA397089461

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1048442
• ClinVar RCV Id: RCV001578543
• dbSNP Id: rs1352162269
• gnomAD v2: 16-88908381-T-C
• gnomAD v4: 16-88841973-T-C
• MyVariant Identifiers: chr16:g.88908381T>C (hg19) ; chr16:g.88841973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841973T>C , CM000678.2:g.88841973T>C	GRCh38
NC_000016.9:g.88908381T>C , CM000678.1:g.88908381T>C	GRCh37
NC_000016.8:g.87435882T>C	NCBI36
NG_008667.1:g.19994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.245-2A>G MANE Select	ENSP00000268695.5:n.245-2A>G
ENST00000268695.9:c.245-2A>G	ENSP00000268695.5:n.245-2A>G
ENST00000562593.5:n.3652A>G
ENST00000562831.1:c.29-2A>G	ENSP00000455174.1:n.29-2A>G
ENST00000565364.1:n.380-2A>G
ENST00000567525.5:c.70-2A>G	ENSP00000454484.1:n.70-2A>G
ENST00000567779.1:n.73A>G
ENST00000568613.5:c.364-2A>G	ENSP00000457921.1:n.364-2A>G
NM_000512.4:c.245-2A>G	NP_000503.1:n.245-2A>G
XM_005256301.2:c.245-2A>G	XP_005256358.1:n.245-2A>G
XM_005256302.1:c.263-2A>G	XP_005256359.1:n.263-2A>G
XM_011522982.1:c.263-2A>G	XP_011521284.1:n.263-2A>G
XM_011522984.1:c.263-2A>G	XP_011521286.1:n.263-2A>G
NM_001323543.1:c.-311-2A>G	NP_001310472.1:n.-311-2A>G
NM_001323544.1:c.263-2A>G	NP_001310473.1:n.263-2A>G
XM_005256301.3:c.245-2A>G	XP_005256358.1:n.245-2A>G
XM_011522982.2:c.263-2A>G	XP_011521284.1:n.263-2A>G
XM_017023111.2:c.263-2A>G	XP_016878600.1:n.263-2A>G
XM_017023112.2:c.263-2A>G	XP_016878601.1:n.263-2A>G
XM_017023113.1:c.-311-2A>G	XP_016878602.1:n.-311-2A>G
NM_000512.5:c.245-2A>G MANE Select	NP_000503.1:n.245-2A>G
NM_001323543.2:c.-311-2A>G	NP_001310472.1:n.-311-2A>G
NM_001323544.2:c.263-2A>G	NP_001310473.1:n.263-2A>G