Canonical Allele Identifier: CA397087970

Gene: GALNS

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841038C>G , CM000678.2:g.88841038C>G	GRCh38
NC_000016.9:g.88907446C>G , CM000678.1:g.88907446C>G	GRCh37
NC_000016.8:g.87434947C>G	NCBI36
NG_008667.1:g.20929G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.376G>C MANE Select	ENSP00000268695.5:p.Glu126Gln
ENST00000268695.9:c.376G>C	ENSP00000268695.5:p.Glu126Gln
ENST00000562593.5:n.3785G>C
ENST00000562831.1:c.160G>C	ENSP00000455174.1:p.Glu54Gln
ENST00000565364.1:n.511G>C
ENST00000567525.5:c.201G>C	ENSP00000454484.1:p.Arg67=
ENST00000567779.1:n.206G>C
ENST00000568613.5:c.495G>C	ENSP00000457921.1:n.495G>C
NM_000512.4:c.376G>C	NP_000503.1:p.Glu126Gln
XM_005256301.2:c.376G>C	XP_005256358.1:p.Glu126Gln
XM_005256302.1:c.394G>C	XP_005256359.1:p.Glu132Gln
XM_011522982.1:c.394G>C	XP_011521284.1:p.Glu132Gln
XM_011522984.1:c.394G>C	XP_011521286.1:p.Glu132Gln
NM_001323543.1:c.-180G>C	NP_001310472.1:n.-180G>C
NM_001323544.1:c.394G>C	NP_001310473.1:p.Glu132Gln
XM_005256301.3:c.376G>C	XP_005256358.1:p.Glu126Gln
XM_011522982.2:c.394G>C	XP_011521284.1:p.Glu132Gln
XM_017023111.2:c.394G>C	XP_016878600.1:p.Glu132Gln
XM_017023112.2:c.394G>C	XP_016878601.1:p.Glu132Gln
XM_017023113.1:c.-180G>C	XP_016878602.1:n.-180G>C
NM_000512.5:c.376G>C MANE Select	NP_000503.1:p.Glu126Gln
NM_001323543.2:c.-180G>C	NP_001310472.1:n.-180G>C
NM_001323544.2:c.394G>C	NP_001310473.1:p.Glu132Gln