Canonical Allele Identifier: CA386295195

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761180T>A , CM000674.2:g.101761180T>A	GRCh38
NC_000012.11:g.102154958T>A , CM000674.1:g.102154958T>A	GRCh37
NC_000012.10:g.100679089T>A	NCBI36
NG_021243.1:g.74688A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3082A>T MANE Select	NP_077288.2:p.Arg1028Ter
ENST00000299314.12:c.3082A>T MANE Select	ENSP00000299314.7:p.Arg1028Ter
NM_024312.4:c.3082A>T	NP_077288.2:p.Arg1028Ter
ENST00000299314.11:c.3082A>T	ENSP00000299314.7:p.Arg1028Ter
XM_006719593.2:c.3082A>T	XP_006719656.1:p.Arg1028Ter
XM_006719593.3:c.3082A>T	XP_006719656.1:p.Arg1028Ter
XM_011538731.1:c.3001A>T	XP_011537033.1:p.Arg1001Ter
XM_011538731.2:c.3001A>T	XP_011537033.1:p.Arg1001Ter
XM_017019961.1:c.2866A>T	XP_016875450.1:p.Arg956Ter
XM_017019962.2:c.1855A>T	XP_016875451.1:p.Arg619Ter