Canonical Allele Identifier: CA397083303

Gene: GALNS

Linked Data

• MyVariant Identifiers: chr16:g.88904128A>T (hg19) ; chr16:g.88837720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88837720A>T , CM000678.2:g.88837720A>T	GRCh38
NC_000016.9:g.88904128A>T , CM000678.1:g.88904128A>T	GRCh37
NC_000016.8:g.87431629A>T	NCBI36
NG_008667.1:g.24247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268695.10:c.468T>A MANE Select	ENSP00000268695.5:p.Phe156Leu
ENST00000268695.9:c.468T>A	ENSP00000268695.5:p.Phe156Leu
ENST00000561812.1:n.424T>A
ENST00000562593.5:n.3877T>A
ENST00000562831.1:c.252T>A	ENSP00000455174.1:p.Phe84Leu
ENST00000562931.5:n.56T>A
ENST00000566563.1:n.170T>A
ENST00000567525.5:c.248-1453T>A	ENSP00000454484.1:n.248-1453T>A
ENST00000568613.5:c.587T>A	ENSP00000457921.1:n.587T>A
NM_000512.4:c.468T>A	NP_000503.1:p.Phe156Leu
XM_005256301.2:c.468T>A	XP_005256358.1:p.Phe156Leu
XM_005256302.1:c.486T>A	XP_005256359.1:p.Phe162Leu
XM_011522982.1:c.486T>A	XP_011521284.1:p.Phe162Leu
XM_011522984.1:c.486T>A	XP_011521286.1:p.Phe162Leu
NM_001323543.1:c.-88T>A	NP_001310472.1:n.-88T>A
NM_001323544.1:c.486T>A	NP_001310473.1:p.Phe162Leu
XM_005256301.3:c.468T>A	XP_005256358.1:p.Phe156Leu
XM_011522982.2:c.486T>A	XP_011521284.1:p.Phe162Leu
XM_017023111.2:c.486T>A	XP_016878600.1:p.Phe162Leu
XM_017023112.2:c.486T>A	XP_016878601.1:p.Phe162Leu
XM_017023113.1:c.-88T>A	XP_016878602.1:n.-88T>A
NM_000512.5:c.468T>A MANE Select	NP_000503.1:p.Phe156Leu
NM_001323543.2:c.-88T>A	NP_001310472.1:n.-88T>A
NM_001323544.2:c.486T>A	NP_001310473.1:p.Phe162Leu