Canonical Allele Identifier: CA2058953110
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761661T= , CM000674.2:g.101761661T= GRCh38
NC_000012.11:g.102155439T= , CM000674.1:g.102155439T= GRCh37
NC_000012.10:g.100679570T= NCBI36
NG_021243.1:g.74207A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2818A= MANE Select ENSP00000299314.7:p.Lys940=
ENST00000299314.11:c.2818A= ENSP00000299314.7:p.Lys940=
NM_024312.4:c.2818A= NP_077288.2:p.Lys940=
XM_006719593.2:c.2818A= XP_006719656.1:p.Lys940=
XM_011538731.1:c.2737A= XP_011537033.1:p.Lys913=
XM_006719593.3:c.2818A= XP_006719656.1:p.Lys940=
XM_011538731.2:c.2737A= XP_011537033.1:p.Lys913=
XM_017019961.1:c.2602A= XP_016875450.1:p.Lys868=
XM_017019962.2:c.1591A= XP_016875451.1:p.Lys531=
NM_024312.5:c.2818A= MANE Select NP_077288.2:p.Lys940=