Canonical Allele Identifier: CA8234914

Gene: GALNS

Linked Data

• ClinVar Variation Id: 284438
• ClinVar RCV Id: RCV000307021 ; RCV002059155
• dbSNP Id: rs374850312
• ExAC: 16:88898515 A / G
• gnomAD v2: 16-88898515-A-G
• gnomAD v3: 16-88832107-A-G
• gnomAD v4: 16-88832107-A-G
• MyVariant Identifiers: chr16:g.88898515A>G (hg19) ; chr16:g.88832107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832107A>G , CM000678.2:g.88832107A>G	GRCh38
NC_000016.9:g.88898515A>G , CM000678.1:g.88898515A>G	GRCh37
NC_000016.8:g.87426016A>G	NCBI36
NG_008667.1:g.29860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.899-6T>C MANE Select	ENSP00000268695.5:n.899-6T>C
ENST00000268695.9:c.899-6T>C	ENSP00000268695.5:n.899-6T>C
ENST00000562593.5:n.4308-6T>C
ENST00000562931.5:n.487-6T>C
ENST00000567525.5:c.580-6T>C	ENSP00000454484.1:n.580-6T>C
ENST00000568613.5:c.1018-6T>C	ENSP00000457921.1:n.1018-6T>C
NM_000512.4:c.899-6T>C	NP_000503.1:n.899-6T>C
XM_005256301.2:c.899-6T>C	XP_005256358.1:n.899-6T>C
XM_005256302.1:c.917-6T>C	XP_005256359.1:n.917-6T>C
XM_011522982.1:c.917-6T>C	XP_011521284.1:n.917-6T>C
XM_011522984.1:c.917-6T>C	XP_011521286.1:n.917-6T>C
NM_001323543.1:c.344-6T>C	NP_001310472.1:n.344-6T>C
NM_001323544.1:c.917-6T>C	NP_001310473.1:n.917-6T>C
XM_005256301.3:c.899-6T>C	XP_005256358.1:n.899-6T>C
XM_011522982.2:c.917-6T>C	XP_011521284.1:n.917-6T>C
XM_017023111.2:c.917-6T>C	XP_016878600.1:n.917-6T>C
XM_017023112.2:c.917-6T>C	XP_016878601.1:n.917-6T>C
XM_017023113.1:c.344-6T>C	XP_016878602.1:n.344-6T>C
NM_000512.5:c.899-6T>C MANE Select	NP_000503.1:n.899-6T>C
NM_001323543.2:c.344-6T>C	NP_001310472.1:n.344-6T>C
NM_001323544.2:c.917-6T>C	NP_001310473.1:n.917-6T>C