Canonical Allele Identifier: CA2058985317
Gene: GNPTAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830860C= , CM000674.2:g.101830860C= GRCh38
NC_000012.11:g.102224638C= , CM000674.1:g.102224638C= GRCh37
NC_000012.10:g.100748769C= NCBI36
NG_021243.1:g.5008G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-185G= MANE Select ENSP00000299314.7:n.-185G=
ENST00000299314.11:c.-185G= ENSP00000299314.7:n.-185G=
NM_024312.4:c.-185G= NP_077288.2:n.-185G=
XM_006719593.2:c.-185G= XP_006719656.1:n.-185G=
NM_024312.5:c.-185G= MANE Select NP_077288.2:n.-185G=