Canonical Allele Identifier: CA397092585

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814489A>G , CM000678.2:g.88814489A>G	GRCh38
NC_000016.9:g.88880897A>G , CM000678.1:g.88880897A>G	GRCh37
NC_000016.8:g.87408398A>G	NCBI36
NG_008013.1:g.2446T>C
NG_008667.1:g.47478T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1519T>C MANE Select	NP_000503.1:p.Cys507Arg
ENST00000268695.10:c.1519T>C MANE Select	ENSP00000268695.5:p.Cys507Arg
NM_000512.4:c.1519T>C	NP_000503.1:p.Cys507Arg
NM_001323543.1:c.964T>C	NP_001310472.1:p.Cys322Arg
NM_001323543.2:c.964T>C	NP_001310472.1:p.Cys322Arg
NM_001323544.1:c.1537T>C	NP_001310473.1:p.Cys513Arg
NM_001323544.2:c.1537T>C	NP_001310473.1:p.Cys513Arg
ENST00000268695.9:c.1519T>C	ENSP00000268695.5:p.Cys507Arg
ENST00000562593.5:n.4928T>C
ENST00000567525.5:c.1200T>C	ENSP00000454484.1:n.1200T>C
ENST00000568613.5:c.1638T>C	ENSP00000457921.1:n.1638T>C
XM_005256301.3:c.*2683T>C	XP_005256358.1:n.*2683T>C
XM_005256302.1:c.1537T>C	XP_005256359.1:p.Cys513Arg
XM_011522982.2:c.*2683T>C	XP_011521284.1:n.*2683T>C
XM_017023112.2:c.*2941T>C	XP_016878601.1:n.*2941T>C
XM_017023113.1:c.*2683T>C	XP_016878602.1:n.*2683T>C