Canonical Allele Identifier: CA397091690

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88842766T>G , CM000678.2:g.88842766T>G	GRCh38
NC_000016.9:g.88909174T>G , CM000678.1:g.88909174T>G	GRCh37
NC_000016.8:g.87436675T>G	NCBI36
NG_008667.1:g.19201A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.184A>C MANE Select	NP_000503.1:p.Met62Leu
ENST00000268695.10:c.184A>C MANE Select	ENSP00000268695.5:p.Met62Leu
NM_000512.4:c.184A>C	NP_000503.1:p.Met62Leu
NM_001323543.1:c.-311-795A>C	NP_001310472.1:n.-311-795A>C
NM_001323543.2:c.-311-795A>C	NP_001310472.1:n.-311-795A>C
NM_001323544.1:c.202A>C	NP_001310473.1:p.Met68Leu
NM_001323544.2:c.202A>C	NP_001310473.1:p.Met68Leu
ENST00000268695.9:c.184A>C	ENSP00000268695.5:p.Met62Leu
ENST00000562593.5:n.2859A>C
ENST00000562831.1:c.29-795A>C	ENSP00000455174.1:n.29-795A>C
ENST00000565364.1:n.319A>C
ENST00000567525.5:c.70-795A>C	ENSP00000454484.1:n.70-795A>C
ENST00000568613.5:c.303A>C	ENSP00000457921.1:n.303A>C
XM_005256301.2:c.184A>C	XP_005256358.1:p.Met62Leu
XM_005256301.3:c.184A>C	XP_005256358.1:p.Met62Leu
XM_005256302.1:c.202A>C	XP_005256359.1:p.Met68Leu
XM_011522982.1:c.202A>C	XP_011521284.1:p.Met68Leu
XM_011522982.2:c.202A>C	XP_011521284.1:p.Met68Leu
XM_011522984.1:c.202A>C	XP_011521286.1:p.Met68Leu
XM_017023111.2:c.202A>C	XP_016878600.1:p.Met68Leu
XM_017023112.2:c.202A>C	XP_016878601.1:p.Met68Leu
XM_017023113.1:c.-311-795A>C	XP_016878602.1:n.-311-795A>C