Canonical Allele Identifier: CA386304622

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780558A>T , CM000674.2:g.101780558A>T	GRCh38
NC_000012.11:g.102174336A>T , CM000674.1:g.102174336A>T	GRCh37
NC_000012.10:g.100698467A>T	NCBI36
NG_021243.1:g.55310T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.635T>A MANE Select	NP_077288.2:p.Leu212Ter
ENST00000299314.12:c.635T>A MANE Select	ENSP00000299314.7:p.Leu212Ter
NM_024312.4:c.635T>A	NP_077288.2:p.Leu212Ter
ENST00000299314.11:c.635T>A	ENSP00000299314.7:p.Leu212Ter
ENST00000549940.5:c.635T>A	ENSP00000449150.1:p.Leu212Ter
ENST00000552681.1:c.269T>A	ENSP00000449217.1:p.Leu90Ter
XM_006719593.2:c.635T>A	XP_006719656.1:p.Leu212Ter
XM_006719593.3:c.635T>A	XP_006719656.1:p.Leu212Ter
XM_011538731.1:c.554T>A	XP_011537033.1:p.Leu185Ter
XM_011538731.2:c.554T>A	XP_011537033.1:p.Leu185Ter
XM_017019961.1:c.419T>A	XP_016875450.1:p.Leu140Ter
XM_017019962.2:c.-716T>A	XP_016875451.1:n.-716T>A