Canonical Allele Identifier: CA386304807

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179806A>T (hg19) ; chr12:g.101786028A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786028A>T , CM000674.2:g.101786028A>T	GRCh38
NC_000012.11:g.102179806A>T , CM000674.1:g.102179806A>T	GRCh37
NC_000012.10:g.100703937A>T	NCBI36
NG_021243.1:g.49840T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.555T>A MANE Select	ENSP00000299314.7:p.Phe185Leu
ENST00000299314.11:c.555T>A	ENSP00000299314.7:p.Phe185Leu
ENST00000549940.5:c.555T>A	ENSP00000449150.1:p.Phe185Leu
ENST00000550352.1:n.349T>A
ENST00000552681.1:c.189T>A	ENSP00000449217.1:p.Phe63Leu
NM_024312.4:c.555T>A	NP_077288.2:p.Phe185Leu
XM_006719593.2:c.555T>A	XP_006719656.1:p.Phe185Leu
XM_011538731.1:c.474T>A	XP_011537033.1:p.Phe158Leu
XM_006719593.3:c.555T>A	XP_006719656.1:p.Phe185Leu
XM_011538731.2:c.474T>A	XP_011537033.1:p.Phe158Leu
XM_017019961.1:c.339T>A	XP_016875450.1:p.Phe113Leu
XM_017019962.2:c.-796T>A	XP_016875451.1:n.-796T>A
NM_024312.5:c.555T>A MANE Select	NP_077288.2:p.Phe185Leu