Canonical Allele Identifier: CA6746940

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101789939T>A , CM000674.2:g.101789939T>A	GRCh38
NC_000012.11:g.102183717T>A , CM000674.1:g.102183717T>A	GRCh37
NC_000012.10:g.100707848T>A	NCBI36
NG_021243.1:g.45929A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.322A>T MANE Select	NP_077288.2:p.Arg108Ter
ENST00000299314.12:c.322A>T MANE Select	ENSP00000299314.7:p.Arg108Ter
NM_024312.4:c.322A>T	NP_077288.2:p.Arg108Ter
ENST00000299314.11:c.322A>T	ENSP00000299314.7:p.Arg108Ter
ENST00000549940.5:c.322A>T	ENSP00000449150.1:p.Arg108Ter
ENST00000550352.1:n.116A>T
XM_006719593.2:c.322A>T	XP_006719656.1:p.Arg108Ter
XM_006719593.3:c.322A>T	XP_006719656.1:p.Arg108Ter
XM_011538731.1:c.241A>T	XP_011537033.1:p.Arg81Ter
XM_011538731.2:c.241A>T	XP_011537033.1:p.Arg81Ter
XM_017019961.1:c.106A>T	XP_016875450.1:p.Arg36Ter
XM_017019962.2:c.-1029A>T	XP_016875451.1:n.-1029A>T