Canonical Allele Identifier: CA397083907

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837766C>T , CM000678.2:g.88837766C>T	GRCh38
NC_000016.9:g.88904174C>T , CM000678.1:g.88904174C>T	GRCh37
NC_000016.8:g.87431675C>T	NCBI36
NG_008667.1:g.24201G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.423-1G>A MANE Select	NP_000503.1:n.423-1G>A
ENST00000268695.10:c.423-1G>A MANE Select	ENSP00000268695.5:n.423-1G>A
NM_000512.4:c.423-1G>A	NP_000503.1:n.423-1G>A
NM_001323543.1:c.-133-1G>A	NP_001310472.1:n.-133-1G>A
NM_001323543.2:c.-133-1G>A	NP_001310472.1:n.-133-1G>A
NM_001323544.1:c.441-1G>A	NP_001310473.1:n.441-1G>A
NM_001323544.2:c.441-1G>A	NP_001310473.1:n.441-1G>A
ENST00000268695.9:c.423-1G>A	ENSP00000268695.5:n.423-1G>A
ENST00000561812.1:n.379-1G>A
ENST00000562593.5:n.3832-1G>A
ENST00000562831.1:c.207-1G>A	ENSP00000455174.1:n.207-1G>A
ENST00000562931.5:n.11-1G>A
ENST00000566563.1:n.124G>A
ENST00000567525.5:c.248-1499G>A	ENSP00000454484.1:n.248-1499G>A
ENST00000568613.5:c.542-1G>A	ENSP00000457921.1:n.542-1G>A
XM_005256301.2:c.423-1G>A	XP_005256358.1:n.423-1G>A
XM_005256301.3:c.423-1G>A	XP_005256358.1:n.423-1G>A
XM_005256302.1:c.441-1G>A	XP_005256359.1:n.441-1G>A
XM_011522982.1:c.441-1G>A	XP_011521284.1:n.441-1G>A
XM_011522982.2:c.441-1G>A	XP_011521284.1:n.441-1G>A
XM_011522984.1:c.441-1G>A	XP_011521286.1:n.441-1G>A
XM_017023111.2:c.441-1G>A	XP_016878600.1:n.441-1G>A
XM_017023112.2:c.441-1G>A	XP_016878601.1:n.441-1G>A
XM_017023113.1:c.-133-1G>A	XP_016878602.1:n.-133-1G>A