Canonical Allele Identifier: CA397076122

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88901669A>G (hg19) ; chr16:g.88835261A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88835261A>G , CM000678.2:g.88835261A>G	GRCh38
NC_000016.9:g.88901669A>G , CM000678.1:g.88901669A>G	GRCh37
NC_000016.8:g.87429170A>G	NCBI36
NG_008667.1:g.26706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.850T>C MANE Select	ENSP00000268695.5:p.Phe284Leu
ENST00000268695.9:c.850T>C	ENSP00000268695.5:p.Phe284Leu
ENST00000562593.5:n.4259T>C
ENST00000562931.5:n.438T>C
ENST00000567525.5:c.531T>C	ENSP00000454484.1:n.531T>C
ENST00000568613.5:c.969T>C	ENSP00000457921.1:n.969T>C
NM_000512.4:c.850T>C	NP_000503.1:p.Phe284Leu
XM_005256301.2:c.850T>C	XP_005256358.1:p.Phe284Leu
XM_005256302.1:c.868T>C	XP_005256359.1:p.Phe290Leu
XM_011522982.1:c.868T>C	XP_011521284.1:p.Phe290Leu
XM_011522984.1:c.868T>C	XP_011521286.1:p.Phe290Leu
NM_001323543.1:c.295T>C	NP_001310472.1:p.Phe99Leu
NM_001323544.1:c.868T>C	NP_001310473.1:p.Phe290Leu
XM_005256301.3:c.850T>C	XP_005256358.1:p.Phe284Leu
XM_011522982.2:c.868T>C	XP_011521284.1:p.Phe290Leu
XM_017023111.2:c.868T>C	XP_016878600.1:p.Phe290Leu
XM_017023112.2:c.868T>C	XP_016878601.1:p.Phe290Leu
XM_017023113.1:c.295T>C	XP_016878602.1:p.Phe99Leu
NM_000512.5:c.850T>C MANE Select	NP_000503.1:p.Phe284Leu
NM_001323543.2:c.295T>C	NP_001310472.1:p.Phe99Leu
NM_001323544.2:c.868T>C	NP_001310473.1:p.Phe290Leu