Canonical Allele Identifier: CA275446

Gene: GALNS

Linked Data

• ClinVar Variation Id: 199031
• ClinVar RCV Id: RCV000180514 ; RCV000624404 ; RCV001193735 ; RCV001389837
• dbSNP Id: rs746756997
• ExAC: 16:88898455 A / C
• gnomAD v2: 16-88898455-A-C
• gnomAD v3: 16-88832047-A-C
• gnomAD v4: 16-88832047-A-C
• MyVariant Identifiers: chr16:g.88898455A>C (hg19) ; chr16:g.88832047A>C (hg38)
• PubMed: PMID:7741581 ; PMID:9189888 ; PMID:12728175 ; PMID:16287098 ; PMID:16539564 ; PMID:17347914 ; PMID:21506915 ; PMID:22358740 ; PMID:22543891 ; PMID:23371450 ; PMID:23385297 ; PMID:23891399 ; PMID:25897204 ; PMID:27774754 ; PMID:28428354

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832047A>C , CM000678.2:g.88832047A>C	GRCh38
NC_000016.9:g.88898455A>C , CM000678.1:g.88898455A>C	GRCh37
NC_000016.8:g.87425956A>C	NCBI36
NG_008667.1:g.29920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.953T>G MANE Select	ENSP00000268695.5:p.Met318Arg
ENST00000268695.9:c.953T>G	ENSP00000268695.5:p.Met318Arg
ENST00000562593.5:n.4362T>G
ENST00000562931.5:n.541T>G
ENST00000567525.5:c.634T>G	ENSP00000454484.1:n.634T>G
ENST00000568613.5:c.1072T>G	ENSP00000457921.1:n.1072T>G
NM_000512.4:c.953T>G	NP_000503.1:p.Met318Arg
XM_005256301.2:c.953T>G	XP_005256358.1:p.Met318Arg
XM_005256302.1:c.971T>G	XP_005256359.1:p.Met324Arg
XM_011522982.1:c.971T>G	XP_011521284.1:p.Met324Arg
XM_011522984.1:c.971T>G	XP_011521286.1:p.Met324Arg
NM_001323543.1:c.398T>G	NP_001310472.1:p.Met133Arg
NM_001323544.1:c.971T>G	NP_001310473.1:p.Met324Arg
XM_005256301.3:c.953T>G	XP_005256358.1:p.Met318Arg
XM_011522982.2:c.971T>G	XP_011521284.1:p.Met324Arg
XM_017023111.2:c.971T>G	XP_016878600.1:p.Met324Arg
XM_017023112.2:c.971T>G	XP_016878601.1:p.Met324Arg
XM_017023113.1:c.398T>G	XP_016878602.1:p.Met133Arg
NM_000512.5:c.953T>G MANE Select	NP_000503.1:p.Met318Arg
NM_001323543.2:c.398T>G	NP_001310472.1:p.Met133Arg
NM_001323544.2:c.971T>G	NP_001310473.1:p.Met324Arg