Canonical Allele Identifier: CA386304510

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780243A>T , CM000674.2:g.101780243A>T	GRCh38
NC_000012.11:g.102174021A>T , CM000674.1:g.102174021A>T	GRCh37
NC_000012.10:g.100698152A>T	NCBI36
NG_021243.1:g.55625T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.680T>A MANE Select	NP_077288.2:p.Leu227Ter
ENST00000299314.12:c.680T>A MANE Select	ENSP00000299314.7:p.Leu227Ter
NM_024312.4:c.680T>A	NP_077288.2:p.Leu227Ter
ENST00000299314.11:c.680T>A	ENSP00000299314.7:p.Leu227Ter
ENST00000549940.5:c.680T>A	ENSP00000449150.1:p.Leu227Ter
ENST00000552681.1:c.314T>A	ENSP00000449217.1:p.Leu105Ter
XM_006719593.2:c.680T>A	XP_006719656.1:p.Leu227Ter
XM_006719593.3:c.680T>A	XP_006719656.1:p.Leu227Ter
XM_011538731.1:c.599T>A	XP_011537033.1:p.Leu200Ter
XM_011538731.2:c.599T>A	XP_011537033.1:p.Leu200Ter
XM_017019961.1:c.464T>A	XP_016875450.1:p.Leu155Ter
XM_017019962.2:c.-671T>A	XP_016875451.1:n.-671T>A