Canonical Allele Identifier: CA8235111

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837637C>T , CM000678.2:g.88837637C>T	GRCh38
NC_000016.9:g.88904045C>T , CM000678.1:g.88904045C>T	GRCh37
NC_000016.8:g.87431546C>T	NCBI36
NG_008667.1:g.24330G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.551G>A MANE Select	NP_000503.1:p.Trp184Ter
ENST00000268695.10:c.551G>A MANE Select	ENSP00000268695.5:p.Trp184Ter
NM_000512.4:c.551G>A	NP_000503.1:p.Trp184Ter
NM_001323543.1:c.-5G>A	NP_001310472.1:n.-5G>A
NM_001323543.2:c.-5G>A	NP_001310472.1:n.-5G>A
NM_001323544.1:c.569G>A	NP_001310473.1:p.Trp190Ter
NM_001323544.2:c.569G>A	NP_001310473.1:p.Trp190Ter
ENST00000268695.9:c.551G>A	ENSP00000268695.5:p.Trp184Ter
ENST00000561812.1:n.507G>A
ENST00000562593.5:n.3960G>A
ENST00000562831.1:c.335G>A	ENSP00000455174.1:p.Trp112Ter
ENST00000562931.5:n.139G>A
ENST00000566563.1:n.253G>A
ENST00000567525.5:c.248-1370G>A	ENSP00000454484.1:n.248-1370G>A
ENST00000568613.5:c.670G>A	ENSP00000457921.1:n.670G>A
XM_005256301.2:c.551G>A	XP_005256358.1:p.Trp184Ter
XM_005256301.3:c.551G>A	XP_005256358.1:p.Trp184Ter
XM_005256302.1:c.569G>A	XP_005256359.1:p.Trp190Ter
XM_011522982.1:c.569G>A	XP_011521284.1:p.Trp190Ter
XM_011522982.2:c.569G>A	XP_011521284.1:p.Trp190Ter
XM_011522984.1:c.569G>A	XP_011521286.1:p.Trp190Ter
XM_017023111.2:c.569G>A	XP_016878600.1:p.Trp190Ter
XM_017023112.2:c.569G>A	XP_016878601.1:p.Trp190Ter
XM_017023113.1:c.-5G>A	XP_016878602.1:n.-5G>A