Canonical Allele Identifier: CA397092741

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814527T>G , CM000678.2:g.88814527T>G	GRCh38
NC_000016.9:g.88880935T>G , CM000678.1:g.88880935T>G	GRCh37
NC_000016.8:g.87408436T>G	NCBI36
NG_008013.1:g.2408A>C
NG_008667.1:g.47440A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1483-2A>C MANE Select	NP_000503.1:n.1483-2A>C
ENST00000268695.10:c.1483-2A>C MANE Select	ENSP00000268695.5:n.1483-2A>C
NM_000512.4:c.1483-2A>C	NP_000503.1:n.1483-2A>C
NM_001323543.1:c.928-2A>C	NP_001310472.1:n.928-2A>C
NM_001323543.2:c.928-2A>C	NP_001310472.1:n.928-2A>C
NM_001323544.1:c.1501-2A>C	NP_001310473.1:n.1501-2A>C
NM_001323544.2:c.1501-2A>C	NP_001310473.1:n.1501-2A>C
ENST00000268695.9:c.1483-2A>C	ENSP00000268695.5:n.1483-2A>C
ENST00000562593.5:n.4892-2A>C
ENST00000567525.5:c.1164-2A>C	ENSP00000454484.1:n.1164-2A>C
ENST00000568613.5:c.1602-2A>C	ENSP00000457921.1:n.1602-2A>C
XM_005256301.3:c.*2645A>C	XP_005256358.1:n.*2645A>C
XM_005256302.1:c.1501-2A>C	XP_005256359.1:n.1501-2A>C
XM_011522982.2:c.*2645A>C	XP_011521284.1:n.*2645A>C
XM_017023112.2:c.*2903A>C	XP_016878601.1:n.*2903A>C
XM_017023113.1:c.*2645A>C	XP_016878602.1:n.*2645A>C