Canonical Allele Identifier: CA2058985282
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830816C= , CM000674.2:g.101830816C= GRCh38
NC_000012.11:g.102224594C= , CM000674.1:g.102224594C= GRCh37
NC_000012.10:g.100748725C= NCBI36
NG_021243.1:g.5052G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-141G= MANE Select ENSP00000299314.7:n.-141G=
ENST00000299314.11:c.-141G= ENSP00000299314.7:n.-141G=
ENST00000392919.4:c.-141G= ENSP00000376651.4:n.-141G=
ENST00000549940.5:c.-141G= ENSP00000449150.1:n.-141G=
NM_024312.4:c.-141G= NP_077288.2:n.-141G=
XM_006719593.2:c.-141G= XP_006719656.1:n.-141G=
XM_006719593.3:c.-141G= XP_006719656.1:n.-141G=
XM_017019961.1:c.-290G= XP_016875450.1:n.-290G=
XM_017019962.2:c.-1491G= XP_016875451.1:n.-1491G=
NM_024312.5:c.-141G= MANE Select NP_077288.2:n.-141G=