Canonical Allele Identifier: CA8235216

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88841907A>G , CM000678.2:g.88841907A>G	GRCh38
NC_000016.9:g.88908315A>G , CM000678.1:g.88908315A>G	GRCh37
NC_000016.8:g.87435816A>G	NCBI36
NG_008667.1:g.20060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.309T>C MANE Select	ENSP00000268695.5:p.His103=
ENST00000268695.9:c.309T>C	ENSP00000268695.5:p.His103=
ENST00000562593.5:n.3718T>C
ENST00000562831.1:c.93T>C	ENSP00000455174.1:p.His31=
ENST00000565364.1:n.444T>C
ENST00000567525.5:c.134T>C	ENSP00000454484.1:p.Met45Thr
ENST00000567779.1:n.139T>C
ENST00000568613.5:c.428T>C	ENSP00000457921.1:n.428T>C
NM_000512.4:c.309T>C	NP_000503.1:p.His103=
XM_005256301.2:c.309T>C	XP_005256358.1:p.His103=
XM_005256302.1:c.327T>C	XP_005256359.1:p.His109=
XM_011522982.1:c.327T>C	XP_011521284.1:p.His109=
XM_011522984.1:c.327T>C	XP_011521286.1:p.His109=
NM_001323543.1:c.-247T>C	NP_001310472.1:n.-247T>C
NM_001323544.1:c.327T>C	NP_001310473.1:p.His109=
XM_005256301.3:c.309T>C	XP_005256358.1:p.His103=
XM_011522982.2:c.327T>C	XP_011521284.1:p.His109=
XM_017023111.2:c.327T>C	XP_016878600.1:p.His109=
XM_017023112.2:c.327T>C	XP_016878601.1:p.His109=
XM_017023113.1:c.-247T>C	XP_016878602.1:n.-247T>C
NM_000512.5:c.309T>C MANE Select	NP_000503.1:p.His103=
NM_001323543.2:c.-247T>C	NP_001310472.1:n.-247T>C
NM_001323544.2:c.327T>C	NP_001310473.1:p.His109=