Canonical Allele Identifier: CA2058985296
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830831C= , CM000674.2:g.101830831C= GRCh38
NC_000012.11:g.102224609C= , CM000674.1:g.102224609C= GRCh37
NC_000012.10:g.100748740C= NCBI36
NG_021243.1:g.5037G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-156G= MANE Select ENSP00000299314.7:n.-156G=
ENST00000299314.11:c.-156G= ENSP00000299314.7:n.-156G=
ENST00000392919.4:c.-156G= ENSP00000376651.4:n.-156G=
NM_024312.4:c.-156G= NP_077288.2:n.-156G=
XM_006719593.2:c.-156G= XP_006719656.1:n.-156G=
XM_017019961.1:c.-305G= XP_016875450.1:n.-305G=
NM_024312.5:c.-156G= MANE Select NP_077288.2:n.-156G=