Canonical Allele Identifier: CA2634892709

Gene: GALNS

Linked Data

• gnomAD v4: 16-88835974-G-C

Genomic Alleles

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

Transcript Alleles

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