Canonical Allele Identifier: CA2058985297
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830832G= , CM000674.2:g.101830832G= GRCh38
NC_000012.11:g.102224610G= , CM000674.1:g.102224610G= GRCh37
NC_000012.10:g.100748741G= NCBI36
NG_021243.1:g.5036C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-157C= MANE Select ENSP00000299314.7:n.-157C=
ENST00000299314.11:c.-157C= ENSP00000299314.7:n.-157C=
ENST00000392919.4:c.-157C= ENSP00000376651.4:n.-157C=
NM_024312.4:c.-157C= NP_077288.2:n.-157C=
XM_006719593.2:c.-157C= XP_006719656.1:n.-157C=
NM_024312.5:c.-157C= MANE Select NP_077288.2:n.-157C=