Canonical Allele Identifier: CA624209866

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814540T>C , CM000678.2:g.88814540T>C	GRCh38
NC_000016.9:g.88880948T>C , CM000678.1:g.88880948T>C	GRCh37
NC_000016.8:g.87408449T>C	NCBI36
NG_008013.1:g.2395A>G
NG_008667.1:g.47427A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1483-15A>G MANE Select	NP_000503.1:n.1483-15A>G
ENST00000268695.10:c.1483-15A>G MANE Select	ENSP00000268695.5:n.1483-15A>G
NM_000512.4:c.1483-15A>G	NP_000503.1:n.1483-15A>G
NM_001323543.1:c.928-15A>G	NP_001310472.1:n.928-15A>G
NM_001323543.2:c.928-15A>G	NP_001310472.1:n.928-15A>G
NM_001323544.1:c.1501-15A>G	NP_001310473.1:n.1501-15A>G
NM_001323544.2:c.1501-15A>G	NP_001310473.1:n.1501-15A>G
ENST00000268695.9:c.1483-15A>G	ENSP00000268695.5:n.1483-15A>G
ENST00000562593.5:n.4892-15A>G
ENST00000567525.5:c.1164-15A>G	ENSP00000454484.1:n.1164-15A>G
ENST00000568613.5:c.1602-15A>G	ENSP00000457921.1:n.1602-15A>G
XM_005256301.3:c.*2632A>G	XP_005256358.1:n.*2632A>G
XM_005256302.1:c.1501-15A>G	XP_005256359.1:n.1501-15A>G
XM_011522982.2:c.*2632A>G	XP_011521284.1:n.*2632A>G
XM_017023112.2:c.*2890A>G	XP_016878601.1:n.*2890A>G
XM_017023113.1:c.*2632A>G	XP_016878602.1:n.*2632A>G