Canonical Allele Identifier: CA8234903

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832083A>C , CM000678.2:g.88832083A>C	GRCh38
NC_000016.9:g.88898491A>C , CM000678.1:g.88898491A>C	GRCh37
NC_000016.8:g.87425992A>C	NCBI36
NG_008667.1:g.29884T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.917T>G MANE Select	NP_000503.1:p.Phe306Cys
ENST00000268695.10:c.917T>G MANE Select	ENSP00000268695.5:p.Phe306Cys
NM_000512.4:c.917T>G	NP_000503.1:p.Phe306Cys
NM_001323543.1:c.362T>G	NP_001310472.1:p.Phe121Cys
NM_001323543.2:c.362T>G	NP_001310472.1:p.Phe121Cys
NM_001323544.1:c.935T>G	NP_001310473.1:p.Phe312Cys
NM_001323544.2:c.935T>G	NP_001310473.1:p.Phe312Cys
ENST00000268695.9:c.917T>G	ENSP00000268695.5:p.Phe306Cys
ENST00000562593.5:n.4326T>G
ENST00000562931.5:n.505T>G
ENST00000567525.5:c.598T>G	ENSP00000454484.1:n.598T>G
ENST00000568613.5:c.1036T>G	ENSP00000457921.1:n.1036T>G
XM_005256301.2:c.917T>G	XP_005256358.1:p.Phe306Cys
XM_005256301.3:c.917T>G	XP_005256358.1:p.Phe306Cys
XM_005256302.1:c.935T>G	XP_005256359.1:p.Phe312Cys
XM_011522982.1:c.935T>G	XP_011521284.1:p.Phe312Cys
XM_011522982.2:c.935T>G	XP_011521284.1:p.Phe312Cys
XM_011522984.1:c.935T>G	XP_011521286.1:p.Phe312Cys
XM_017023111.2:c.935T>G	XP_016878600.1:p.Phe312Cys
XM_017023112.2:c.935T>G	XP_016878601.1:p.Phe312Cys
XM_017023113.1:c.362T>G	XP_016878602.1:p.Phe121Cys