Canonical Allele Identifier: CA2058985121
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830563C= , CM000674.2:g.101830563C= GRCh38
NC_000012.11:g.102224341C= , CM000674.1:g.102224341C= GRCh37
NC_000012.10:g.100748472C= NCBI36
NG_021243.1:g.5305G=

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.113G= MANE Select ENSP00000299314.7:p.Gly38=
ENST00000647144.1:n.101G=
ENST00000299314.11:c.113G= ENSP00000299314.7:p.Gly38=
ENST00000392919.4:c.113G= ENSP00000376651.4:p.Gly38=
ENST00000549165.1:c.113G= ENSP00000450413.1:p.Gly38=
ENST00000549940.5:c.113G= ENSP00000449150.1:p.Gly38=
NM_024312.4:c.113G= NP_077288.2:p.Gly38=
XM_006719593.2:c.113G= XP_006719656.1:p.Gly38=
XM_006719593.3:c.113G= XP_006719656.1:p.Gly38=
XM_017019961.1:c.-100+63G= XP_016875450.1:n.-100+63G=
XM_017019962.2:c.-1238G= XP_016875451.1:n.-1238G=
NM_024312.5:c.113G= MANE Select NP_077288.2:p.Gly38=