Canonical Allele Identifier: CA10648347

Gene: GALNS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814176A>G , CM000678.2:g.88814176A>G	GRCh38
NC_000016.9:g.88880584A>G , CM000678.1:g.88880584A>G	GRCh37
NC_000016.8:g.87408085A>G	NCBI36
NG_008013.1:g.2759T>C
NG_008667.1:g.47791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.*263T>C MANE Select	ENSP00000268695.5:n.*263T>C
ENST00000268695.9:c.*263T>C	ENSP00000268695.5:n.*263T>C
ENST00000562593.5:n.5241T>C
ENST00000567525.5:c.1513T>C	ENSP00000454484.1:n.1513T>C
NM_000512.4:c.*263T>C	NP_000503.1:n.*263T>C
XM_005256302.1:c.*263T>C	XP_005256359.1:n.*263T>C
NM_001323543.1:c.*263T>C	NP_001310472.1:n.*263T>C
NM_001323544.1:c.*263T>C	NP_001310473.1:n.*263T>C
XM_005256301.3:c.*2996T>C	XP_005256358.1:n.*2996T>C
XM_011522982.2:c.*2996T>C	XP_011521284.1:n.*2996T>C
XM_017023112.2:c.*3254T>C	XP_016878601.1:n.*3254T>C
XM_017023113.1:c.*2996T>C	XP_016878602.1:n.*2996T>C
NM_000512.5:c.*263T>C MANE Select	NP_000503.1:n.*263T>C
NM_001323543.2:c.*263T>C	NP_001310472.1:n.*263T>C
NM_001323544.2:c.*263T>C	NP_001310473.1:n.*263T>C