Canonical Allele Identifier: CA2058985245
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830767C= , CM000674.2:g.101830767C= GRCh38
NC_000012.11:g.102224545C= , CM000674.1:g.102224545C= GRCh37
NC_000012.10:g.100748676C= NCBI36
NG_021243.1:g.5101G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-92G= MANE Select ENSP00000299314.7:n.-92G=
ENST00000299314.11:c.-92G= ENSP00000299314.7:n.-92G=
ENST00000392919.4:c.-92G= ENSP00000376651.4:n.-92G=
ENST00000549940.5:c.-92G= ENSP00000449150.1:n.-92G=
NM_024312.4:c.-92G= NP_077288.2:n.-92G=
XM_006719593.2:c.-92G= XP_006719656.1:n.-92G=
XM_006719593.3:c.-92G= XP_006719656.1:n.-92G=
XM_017019961.1:c.-241G= XP_016875450.1:n.-241G=
XM_017019962.2:c.-1442G= XP_016875451.1:n.-1442G=
NM_024312.5:c.-92G= MANE Select NP_077288.2:n.-92G=