Canonical Allele Identifier: CA8234882

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88832007A>G , CM000678.2:g.88832007A>G	GRCh38
NC_000016.9:g.88898415A>G , CM000678.1:g.88898415A>G	GRCh37
NC_000016.8:g.87425916A>G	NCBI36
NG_008667.1:g.29960T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.993T>C MANE Select	NP_000503.1:p.Thr331=
ENST00000268695.10:c.993T>C MANE Select	ENSP00000268695.5:p.Thr331=
NM_000512.4:c.993T>C	NP_000503.1:p.Thr331=
NM_001323543.1:c.438T>C	NP_001310472.1:p.Thr146=
NM_001323543.2:c.438T>C	NP_001310472.1:p.Thr146=
NM_001323544.1:c.1011T>C	NP_001310473.1:p.Thr337=
NM_001323544.2:c.1011T>C	NP_001310473.1:p.Thr337=
ENST00000268695.9:c.993T>C	ENSP00000268695.5:p.Thr331=
ENST00000562593.5:n.4402T>C
ENST00000567525.5:c.674T>C	ENSP00000454484.1:n.674T>C
ENST00000568613.5:c.1112T>C	ENSP00000457921.1:n.1112T>C
XM_005256301.2:c.993T>C	XP_005256358.1:p.Thr331=
XM_005256301.3:c.993T>C	XP_005256358.1:p.Thr331=
XM_005256302.1:c.1011T>C	XP_005256359.1:p.Thr337=
XM_011522982.1:c.1011T>C	XP_011521284.1:p.Thr337=
XM_011522982.2:c.1011T>C	XP_011521284.1:p.Thr337=
XM_011522984.1:c.1011T>C	XP_011521286.1:p.Thr337=
XM_017023111.2:c.1011T>C	XP_016878600.1:p.Thr337=
XM_017023112.2:c.1011T>C	XP_016878601.1:p.Thr337=
XM_017023113.1:c.438T>C	XP_016878602.1:p.Thr146=