Canonical Allele Identifier: CA386304363

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780178C>A , CM000674.2:g.101780178C>A	GRCh38
NC_000012.11:g.102173956C>A , CM000674.1:g.102173956C>A	GRCh37
NC_000012.10:g.100698087C>A	NCBI36
NG_021243.1:g.55690G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.745G>T MANE Select	NP_077288.2:p.Glu249Ter
ENST00000299314.12:c.745G>T MANE Select	ENSP00000299314.7:p.Glu249Ter
NM_024312.4:c.745G>T	NP_077288.2:p.Glu249Ter
ENST00000299314.11:c.745G>T	ENSP00000299314.7:p.Glu249Ter
ENST00000549940.5:c.745G>T	ENSP00000449150.1:p.Glu249Ter
ENST00000552681.1:c.379G>T	ENSP00000449217.1:p.Glu127Ter
XM_006719593.2:c.745G>T	XP_006719656.1:p.Glu249Ter
XM_006719593.3:c.745G>T	XP_006719656.1:p.Glu249Ter
XM_011538731.1:c.664G>T	XP_011537033.1:p.Glu222Ter
XM_011538731.2:c.664G>T	XP_011537033.1:p.Glu222Ter
XM_017019961.1:c.529G>T	XP_016875450.1:p.Glu177Ter
XM_017019962.2:c.-606G>T	XP_016875451.1:n.-606G>T