Canonical Allele Identifier: CA386304809

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179807A>T (hg19) ; chr12:g.101786029A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786029A>T , CM000674.2:g.101786029A>T	GRCh38
NC_000012.11:g.102179807A>T , CM000674.1:g.102179807A>T	GRCh37
NC_000012.10:g.100703938A>T	NCBI36
NG_021243.1:g.49839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.554T>A MANE Select	ENSP00000299314.7:p.Phe185Tyr
ENST00000299314.11:c.554T>A	ENSP00000299314.7:p.Phe185Tyr
ENST00000549940.5:c.554T>A	ENSP00000449150.1:p.Phe185Tyr
ENST00000550352.1:n.348T>A
ENST00000552681.1:c.188T>A	ENSP00000449217.1:p.Phe63Tyr
NM_024312.4:c.554T>A	NP_077288.2:p.Phe185Tyr
XM_006719593.2:c.554T>A	XP_006719656.1:p.Phe185Tyr
XM_011538731.1:c.473T>A	XP_011537033.1:p.Phe158Tyr
XM_006719593.3:c.554T>A	XP_006719656.1:p.Phe185Tyr
XM_011538731.2:c.473T>A	XP_011537033.1:p.Phe158Tyr
XM_017019961.1:c.338T>A	XP_016875450.1:p.Phe113Tyr
XM_017019962.2:c.-797T>A	XP_016875451.1:n.-797T>A
NM_024312.5:c.554T>A MANE Select	NP_077288.2:p.Phe185Tyr