Canonical Allele Identifier: CA8235123

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837694C>T , CM000678.2:g.88837694C>T	GRCh38
NC_000016.9:g.88904102C>T , CM000678.1:g.88904102C>T	GRCh37
NC_000016.8:g.87431603C>T	NCBI36
NG_008667.1:g.24273G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.494G>A MANE Select	NP_000503.1:p.Cys165Tyr
ENST00000268695.10:c.494G>A MANE Select	ENSP00000268695.5:p.Cys165Tyr
NM_000512.4:c.494G>A	NP_000503.1:p.Cys165Tyr
NM_001323543.1:c.-62G>A	NP_001310472.1:n.-62G>A
NM_001323543.2:c.-62G>A	NP_001310472.1:n.-62G>A
NM_001323544.1:c.512G>A	NP_001310473.1:p.Cys171Tyr
NM_001323544.2:c.512G>A	NP_001310473.1:p.Cys171Tyr
ENST00000268695.9:c.494G>A	ENSP00000268695.5:p.Cys165Tyr
ENST00000561812.1:n.450G>A
ENST00000562593.5:n.3903G>A
ENST00000562831.1:c.278G>A	ENSP00000455174.1:p.Cys93Tyr
ENST00000562931.5:n.82G>A
ENST00000566563.1:n.196G>A
ENST00000567525.5:c.248-1427G>A	ENSP00000454484.1:n.248-1427G>A
ENST00000568613.5:c.613G>A	ENSP00000457921.1:n.613G>A
XM_005256301.2:c.494G>A	XP_005256358.1:p.Cys165Tyr
XM_005256301.3:c.494G>A	XP_005256358.1:p.Cys165Tyr
XM_005256302.1:c.512G>A	XP_005256359.1:p.Cys171Tyr
XM_011522982.1:c.512G>A	XP_011521284.1:p.Cys171Tyr
XM_011522982.2:c.512G>A	XP_011521284.1:p.Cys171Tyr
XM_011522984.1:c.512G>A	XP_011521286.1:p.Cys171Tyr
XM_017023111.2:c.512G>A	XP_016878600.1:p.Cys171Tyr
XM_017023112.2:c.512G>A	XP_016878601.1:p.Cys171Tyr
XM_017023113.1:c.-62G>A	XP_016878602.1:n.-62G>A