Canonical Allele Identifier: CA1139664916

Gene: GALNS

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814169A>G , CM000678.2:g.88814169A>G	GRCh38
NC_000016.9:g.88880577A>G , CM000678.1:g.88880577A>G	GRCh37
NC_000016.8:g.87408078A>G	NCBI36
NG_008013.1:g.2766T>C
NG_008667.1:g.47798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.*270T>C MANE Select	ENSP00000268695.5:n.*270T>C
ENST00000268695.9:c.*270T>C	ENSP00000268695.5:n.*270T>C
ENST00000562593.5:n.5248T>C
ENST00000567525.5:c.1520T>C	ENSP00000454484.1:n.1520T>C
NM_000512.4:c.*270T>C	NP_000503.1:n.*270T>C
XM_005256302.1:c.*270T>C	XP_005256359.1:n.*270T>C
NM_001323543.1:c.*270T>C	NP_001310472.1:n.*270T>C
NM_001323544.1:c.*270T>C	NP_001310473.1:n.*270T>C
XM_005256301.3:c.*3003T>C	XP_005256358.1:n.*3003T>C
XM_011522982.2:c.*3003T>C	XP_011521284.1:n.*3003T>C
XM_017023112.2:c.*3261T>C	XP_016878601.1:n.*3261T>C
XM_017023113.1:c.*3003T>C	XP_016878602.1:n.*3003T>C
NM_000512.5:c.*270T>C MANE Select	NP_000503.1:n.*270T>C
NM_001323543.2:c.*270T>C	NP_001310472.1:n.*270T>C
NM_001323544.2:c.*270T>C	NP_001310473.1:n.*270T>C