Canonical Allele Identifier: CA339831

Gene: GALNS

Linked Data

• ClinVar Variation Id: 713
• ClinVar RCV Id: RCV000000748 ; RCV001193737
• dbSNP Id: rs118204446
• ExAC: 16:88898473 G / C
• gnomAD v2: 16-88898473-G-C
• gnomAD v3: 16-88832065-G-C
• gnomAD v4: 16-88832065-G-C
• MyVariant Identifiers: chr16:g.88898473G>C (hg19) ; chr16:g.88832065G>C (hg38)
• PubMed: PMID:9521421 ; PMID:16287098 ; PMID:23844448

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832065G>C , CM000678.2:g.88832065G>C	GRCh38
NC_000016.9:g.88898473G>C , CM000678.1:g.88898473G>C	GRCh37
NC_000016.8:g.87425974G>C	NCBI36
NG_008667.1:g.29902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.935C>G MANE Select	ENSP00000268695.5:p.Thr312Ser
ENST00000268695.9:c.935C>G	ENSP00000268695.5:p.Thr312Ser
ENST00000562593.5:n.4344C>G
ENST00000562931.5:n.523C>G
ENST00000567525.5:c.616C>G	ENSP00000454484.1:n.616C>G
ENST00000568613.5:c.1054C>G	ENSP00000457921.1:n.1054C>G
NM_000512.4:c.935C>G	NP_000503.1:p.Thr312Ser
XM_005256301.2:c.935C>G	XP_005256358.1:p.Thr312Ser
XM_005256302.1:c.953C>G	XP_005256359.1:p.Thr318Ser
XM_011522982.1:c.953C>G	XP_011521284.1:p.Thr318Ser
XM_011522984.1:c.953C>G	XP_011521286.1:p.Thr318Ser
NM_001323543.1:c.380C>G	NP_001310472.1:p.Thr127Ser
NM_001323544.1:c.953C>G	NP_001310473.1:p.Thr318Ser
XM_005256301.3:c.935C>G	XP_005256358.1:p.Thr312Ser
XM_011522982.2:c.953C>G	XP_011521284.1:p.Thr318Ser
XM_017023111.2:c.953C>G	XP_016878600.1:p.Thr318Ser
XM_017023112.2:c.953C>G	XP_016878601.1:p.Thr318Ser
XM_017023113.1:c.380C>G	XP_016878602.1:p.Thr127Ser
NM_000512.5:c.935C>G MANE Select	NP_000503.1:p.Thr312Ser
NM_001323543.2:c.380C>G	NP_001310472.1:p.Thr127Ser
NM_001323544.2:c.953C>G	NP_001310473.1:p.Thr318Ser