Canonical Allele Identifier: CA357205

Gene: GALNS

Linked Data

• ClinVar Variation Id: 224783
• ClinVar RCV Id: RCV000210353
• dbSNP Id: rs761850746
• gnomAD v3: 16-88835212-C-G
• gnomAD v4: 16-88835212-C-G
• MyVariant Identifiers: chr16:g.88901620C>G (hg19) ; chr16:g.88835212C>G (hg38)
• PubMed: PMID:16287098 ; PMID:23844448

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835212C>G , CM000678.2:g.88835212C>G	GRCh38
NC_000016.9:g.88901620C>G , CM000678.1:g.88901620C>G	GRCh37
NC_000016.8:g.87429121C>G	NCBI36
NG_008667.1:g.26755G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.898+1G>C MANE Select	ENSP00000268695.5:n.898+1G>C
ENST00000268695.9:c.898+1G>C	ENSP00000268695.5:n.898+1G>C
ENST00000562593.5:n.4307+1G>C
ENST00000562931.5:n.486+1G>C
ENST00000567525.5:c.579+1G>C	ENSP00000454484.1:n.579+1G>C
ENST00000568613.5:c.1017+1G>C	ENSP00000457921.1:n.1017+1G>C
NM_000512.4:c.898+1G>C	NP_000503.1:n.898+1G>C
XM_005256301.2:c.898+1G>C	XP_005256358.1:n.898+1G>C
XM_005256302.1:c.916+1G>C	XP_005256359.1:n.916+1G>C
XM_011522982.1:c.916+1G>C	XP_011521284.1:n.916+1G>C
XM_011522984.1:c.916+1G>C	XP_011521286.1:n.916+1G>C
NM_001323543.1:c.343+1G>C	NP_001310472.1:n.343+1G>C
NM_001323544.1:c.916+1G>C	NP_001310473.1:n.916+1G>C
XM_005256301.3:c.898+1G>C	XP_005256358.1:n.898+1G>C
XM_011522982.2:c.916+1G>C	XP_011521284.1:n.916+1G>C
XM_017023111.2:c.916+1G>C	XP_016878600.1:n.916+1G>C
XM_017023112.2:c.916+1G>C	XP_016878601.1:n.916+1G>C
XM_017023113.1:c.343+1G>C	XP_016878602.1:n.343+1G>C
NM_000512.5:c.898+1G>C MANE Select	NP_000503.1:n.898+1G>C
NM_001323543.2:c.343+1G>C	NP_001310472.1:n.343+1G>C
NM_001323544.2:c.916+1G>C	NP_001310473.1:n.916+1G>C