Canonical Allele Identifier: CA8234673

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88818083G>A , CM000678.2:g.88818083G>A	GRCh38
NC_000016.9:g.88884491G>A , CM000678.1:g.88884491G>A	GRCh37
NC_000016.8:g.87411992G>A	NCBI36
NG_008667.1:g.43884C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1406C>T MANE Select	NP_000503.1:p.Thr469Ile
ENST00000268695.10:c.1406C>T MANE Select	ENSP00000268695.5:p.Thr469Ile
NM_000512.4:c.1406C>T	NP_000503.1:p.Thr469Ile
NM_001323543.1:c.851C>T	NP_001310472.1:p.Thr284Ile
NM_001323543.2:c.851C>T	NP_001310472.1:p.Thr284Ile
NM_001323544.1:c.1424C>T	NP_001310473.1:p.Thr475Ile
NM_001323544.2:c.1424C>T	NP_001310473.1:p.Thr475Ile
ENST00000268695.9:c.1406C>T	ENSP00000268695.5:p.Thr469Ile
ENST00000562593.5:n.4815C>T
ENST00000567525.5:c.1087C>T	ENSP00000454484.1:n.1087C>T
ENST00000568613.5:c.1525C>T	ENSP00000457921.1:n.1525C>T
XM_005256301.2:c.1406C>T	XP_005256358.1:p.Thr469Ile
XM_005256301.3:c.1406C>T	XP_005256358.1:p.Thr469Ile
XM_005256302.1:c.1424C>T	XP_005256359.1:p.Thr475Ile
XM_011522982.1:c.1424C>T	XP_011521284.1:p.Thr475Ile
XM_011522982.2:c.1424C>T	XP_011521284.1:p.Thr475Ile
XM_011522984.1:c.1424C>T	XP_011521286.1:p.Thr475Ile
XM_017023111.2:c.1424C>T	XP_016878600.1:p.Thr475Ile
XM_017023112.2:c.1424C>T	XP_016878601.1:p.Thr475Ile
XM_017023113.1:c.851C>T	XP_016878602.1:p.Thr284Ile