Canonical Allele Identifier: CA286403008

Gene: GALNS

Linked Data

• ClinVar Variation Id: 1279515
• ClinVar RCV Id: RCV001693088
• dbSNP Id: rs113435087
• gnomAD v2: 16-88902382-G-A
• gnomAD v3: 16-88835974-G-A
• gnomAD v4: 16-88835974-G-A
• MyVariant Identifiers: chr16:g.88902382G>A (hg19) ; chr16:g.88835974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835974G>A , CM000678.2:g.88835974G>A	GRCh38
NC_000016.9:g.88902382G>A , CM000678.1:g.88902382G>A	GRCh37
NC_000016.8:g.87429883G>A	NCBI36
NG_008667.1:g.25993C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268695.10:c.634-125C>T MANE Select	ENSP00000268695.5:n.634-125C>T
ENST00000268695.9:c.634-125C>T	ENSP00000268695.5:n.634-125C>T
ENST00000562593.5:n.4043-125C>T
ENST00000562831.1:c.418-125C>T	ENSP00000455174.1:n.418-125C>T
ENST00000562931.5:n.222-125C>T
ENST00000566563.1:n.336-125C>T
ENST00000567525.5:c.315-125C>T	ENSP00000454484.1:n.315-125C>T
ENST00000568613.5:c.753-125C>T	ENSP00000457921.1:n.753-125C>T
NM_000512.4:c.634-125C>T	NP_000503.1:n.634-125C>T
XM_005256301.2:c.634-125C>T	XP_005256358.1:n.634-125C>T
XM_005256302.1:c.652-125C>T	XP_005256359.1:n.652-125C>T
XM_011522982.1:c.652-125C>T	XP_011521284.1:n.652-125C>T
XM_011522984.1:c.652-125C>T	XP_011521286.1:n.652-125C>T
NM_001323543.1:c.79-125C>T	NP_001310472.1:n.79-125C>T
NM_001323544.1:c.652-125C>T	NP_001310473.1:n.652-125C>T
XM_005256301.3:c.634-125C>T	XP_005256358.1:n.634-125C>T
XM_011522982.2:c.652-125C>T	XP_011521284.1:n.652-125C>T
XM_017023111.2:c.652-125C>T	XP_016878600.1:n.652-125C>T
XM_017023112.2:c.652-125C>T	XP_016878601.1:n.652-125C>T
XM_017023113.1:c.79-125C>T	XP_016878602.1:n.79-125C>T
NM_000512.5:c.634-125C>T MANE Select	NP_000503.1:n.634-125C>T
NM_001323543.2:c.79-125C>T	NP_001310472.1:n.79-125C>T
NM_001323544.2:c.652-125C>T	NP_001310473.1:n.652-125C>T