Canonical Allele Identifier: CA2058985179
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830675T= , CM000674.2:g.101830675T= GRCh38
NC_000012.11:g.102224453T= , CM000674.1:g.102224453T= GRCh37
NC_000012.10:g.100748584T= NCBI36
NG_021243.1:g.5193A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1A= MANE Select ENSP00000299314.7:p.Met1=
ENST00000299314.11:c.1A= ENSP00000299314.7:p.Met1=
ENST00000392919.4:c.1A= ENSP00000376651.4:p.Met1=
ENST00000549165.1:c.1A= ENSP00000450413.1:p.Met1=
ENST00000549940.5:c.1A= ENSP00000449150.1:p.Met1=
NM_024312.4:c.1A= NP_077288.2:p.Met1=
XM_006719593.2:c.1A= XP_006719656.1:p.Met1=
XM_006719593.3:c.1A= XP_006719656.1:p.Met1=
XM_017019961.1:c.-149A= XP_016875450.1:n.-149A=
XM_017019962.2:c.-1350A= XP_016875451.1:n.-1350A=
NM_024312.5:c.1A= MANE Select NP_077288.2:p.Met1=