Canonical Allele Identifier: CA397083878

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837763T>G , CM000678.2:g.88837763T>G	GRCh38
NC_000016.9:g.88904171T>G , CM000678.1:g.88904171T>G	GRCh37
NC_000016.8:g.87431672T>G	NCBI36
NG_008667.1:g.24204A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.425A>C MANE Select	NP_000503.1:p.His142Pro
ENST00000268695.10:c.425A>C MANE Select	ENSP00000268695.5:p.His142Pro
NM_000512.4:c.425A>C	NP_000503.1:p.His142Pro
NM_001323543.1:c.-131A>C	NP_001310472.1:n.-131A>C
NM_001323543.2:c.-131A>C	NP_001310472.1:n.-131A>C
NM_001323544.1:c.443A>C	NP_001310473.1:p.His148Pro
NM_001323544.2:c.443A>C	NP_001310473.1:p.His148Pro
ENST00000268695.9:c.425A>C	ENSP00000268695.5:p.His142Pro
ENST00000561812.1:n.381A>C
ENST00000562593.5:n.3834A>C
ENST00000562831.1:c.209A>C	ENSP00000455174.1:p.His70Pro
ENST00000562931.5:n.13A>C
ENST00000566563.1:n.127A>C
ENST00000567525.5:c.248-1496A>C	ENSP00000454484.1:n.248-1496A>C
ENST00000568613.5:c.544A>C	ENSP00000457921.1:n.544A>C
XM_005256301.2:c.425A>C	XP_005256358.1:p.His142Pro
XM_005256301.3:c.425A>C	XP_005256358.1:p.His142Pro
XM_005256302.1:c.443A>C	XP_005256359.1:p.His148Pro
XM_011522982.1:c.443A>C	XP_011521284.1:p.His148Pro
XM_011522982.2:c.443A>C	XP_011521284.1:p.His148Pro
XM_011522984.1:c.443A>C	XP_011521286.1:p.His148Pro
XM_017023111.2:c.443A>C	XP_016878600.1:p.His148Pro
XM_017023112.2:c.443A>C	XP_016878601.1:p.His148Pro
XM_017023113.1:c.-131A>C	XP_016878602.1:n.-131A>C