Canonical Allele Identifier: CA2634890931

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835166-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835166A>T , CM000678.2:g.88835166A>T	GRCh38
NC_000016.9:g.88901574A>T , CM000678.1:g.88901574A>T	GRCh37
NC_000016.8:g.87429075A>T	NCBI36
NG_008667.1:g.26801T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.898+47T>A MANE Select	ENSP00000268695.5:n.898+47T>A
ENST00000268695.9:c.898+47T>A	ENSP00000268695.5:n.898+47T>A
ENST00000562593.5:n.4307+47T>A
ENST00000562931.5:n.486+47T>A
ENST00000567525.5:c.579+47T>A	ENSP00000454484.1:n.579+47T>A
ENST00000568613.5:c.1017+47T>A	ENSP00000457921.1:n.1017+47T>A
NM_000512.4:c.898+47T>A	NP_000503.1:n.898+47T>A
XM_005256301.2:c.898+47T>A	XP_005256358.1:n.898+47T>A
XM_005256302.1:c.916+47T>A	XP_005256359.1:n.916+47T>A
XM_011522982.1:c.916+47T>A	XP_011521284.1:n.916+47T>A
XM_011522984.1:c.916+47T>A	XP_011521286.1:n.916+47T>A
NM_001323543.1:c.343+47T>A	NP_001310472.1:n.343+47T>A
NM_001323544.1:c.916+47T>A	NP_001310473.1:n.916+47T>A
XM_005256301.3:c.898+47T>A	XP_005256358.1:n.898+47T>A
XM_011522982.2:c.916+47T>A	XP_011521284.1:n.916+47T>A
XM_017023111.2:c.916+47T>A	XP_016878600.1:n.916+47T>A
XM_017023112.2:c.916+47T>A	XP_016878601.1:n.916+47T>A
XM_017023113.1:c.343+47T>A	XP_016878602.1:n.343+47T>A
NM_000512.5:c.898+47T>A MANE Select	NP_000503.1:n.898+47T>A
NM_001323543.2:c.343+47T>A	NP_001310472.1:n.343+47T>A
NM_001323544.2:c.916+47T>A	NP_001310473.1:n.916+47T>A