Canonical Allele Identifier: CA8234641

Gene: GALNS

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88814512G>A , CM000678.2:g.88814512G>A	GRCh38
NC_000016.9:g.88880920G>A , CM000678.1:g.88880920G>A	GRCh37
NC_000016.8:g.87408421G>A	NCBI36
NG_008013.1:g.2423C>T
NG_008667.1:g.47455C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000512.5:c.1496C>T MANE Select	NP_000503.1:p.Pro499Leu
ENST00000268695.10:c.1496C>T MANE Select	ENSP00000268695.5:p.Pro499Leu
NM_000512.4:c.1496C>T	NP_000503.1:p.Pro499Leu
NM_001323543.1:c.941C>T	NP_001310472.1:p.Pro314Leu
NM_001323543.2:c.941C>T	NP_001310472.1:p.Pro314Leu
NM_001323544.1:c.1514C>T	NP_001310473.1:p.Pro505Leu
NM_001323544.2:c.1514C>T	NP_001310473.1:p.Pro505Leu
ENST00000268695.9:c.1496C>T	ENSP00000268695.5:p.Pro499Leu
ENST00000562593.5:n.4905C>T
ENST00000567525.5:c.1177C>T	ENSP00000454484.1:n.1177C>T
ENST00000568613.5:c.1615C>T	ENSP00000457921.1:n.1615C>T
XM_005256301.3:c.*2660C>T	XP_005256358.1:n.*2660C>T
XM_005256302.1:c.1514C>T	XP_005256359.1:p.Pro505Leu
XM_011522982.2:c.*2660C>T	XP_011521284.1:n.*2660C>T
XM_017023112.2:c.*2918C>T	XP_016878601.1:n.*2918C>T
XM_017023113.1:c.*2660C>T	XP_016878602.1:n.*2660C>T