Canonical Allele Identifier: CA2058985323
Gene: GNPTAB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830870G= , CM000674.2:g.101830870G= GRCh38
NC_000012.11:g.102224648G= , CM000674.1:g.102224648G= GRCh37
NC_000012.10:g.100748779G= NCBI36
NG_021243.1:g.4998C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-195C= MANE Select ENSP00000299314.7:n.-195C=
ENST00000299314.11:c.-195C= ENSP00000299314.7:n.-195C=
NM_024312.5:c.-195C= MANE Select NP_077288.2:n.-195C=
Search 100 bp 5'
Search 100 bp 3'