Canonical Allele Identifier: CA221058

Gene: GALNS

Linked Data

• ClinVar Variation Id: 93179
• ClinVar RCV Id: RCV000178782 ; RCV000790674
• dbSNP Id: rs398123439
• ExAC: 16:88904119 C / T
• gnomAD v2: 16-88904119-C-T
• gnomAD v3: 16-88837711-C-T
• gnomAD v4: 16-88837711-C-T
• MyVariant Identifiers: chr16:g.88904119C>T (hg19) ; chr16:g.88837711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837711C>T , CM000678.2:g.88837711C>T	GRCh38
NC_000016.9:g.88904119C>T , CM000678.1:g.88904119C>T	GRCh37
NC_000016.8:g.87431620C>T	NCBI36
NG_008667.1:g.24256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.477G>A MANE Select	ENSP00000268695.5:p.Trp159Ter
ENST00000268695.9:c.477G>A	ENSP00000268695.5:p.Trp159Ter
ENST00000561812.1:n.433G>A
ENST00000562593.5:n.3886G>A
ENST00000562831.1:c.261G>A	ENSP00000455174.1:p.Trp87Ter
ENST00000562931.5:n.65G>A
ENST00000566563.1:n.179G>A
ENST00000567525.5:c.248-1444G>A	ENSP00000454484.1:n.248-1444G>A
ENST00000568613.5:c.596G>A	ENSP00000457921.1:n.596G>A
NM_000512.4:c.477G>A	NP_000503.1:p.Trp159Ter
XM_005256301.2:c.477G>A	XP_005256358.1:p.Trp159Ter
XM_005256302.1:c.495G>A	XP_005256359.1:p.Trp165Ter
XM_011522982.1:c.495G>A	XP_011521284.1:p.Trp165Ter
XM_011522984.1:c.495G>A	XP_011521286.1:p.Trp165Ter
NM_001323543.1:c.-79G>A	NP_001310472.1:n.-79G>A
NM_001323544.1:c.495G>A	NP_001310473.1:p.Trp165Ter
XM_005256301.3:c.477G>A	XP_005256358.1:p.Trp159Ter
XM_011522982.2:c.495G>A	XP_011521284.1:p.Trp165Ter
XM_017023111.2:c.495G>A	XP_016878600.1:p.Trp165Ter
XM_017023112.2:c.495G>A	XP_016878601.1:p.Trp165Ter
XM_017023113.1:c.-79G>A	XP_016878602.1:n.-79G>A
NM_000512.5:c.477G>A MANE Select	NP_000503.1:p.Trp159Ter
NM_001323543.2:c.-79G>A	NP_001310472.1:n.-79G>A
NM_001323544.2:c.495G>A	NP_001310473.1:p.Trp165Ter