Canonical Allele Identifier: CA2531688184
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830871-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830871G>A , CM000674.2:g.101830871G>A GRCh38
NC_000012.11:g.102224649G>A , CM000674.1:g.102224649G>A GRCh37
NC_000012.10:g.100748780G>A NCBI36
NG_021243.1:g.4997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-196C>T MANE Select ENSP00000299314.7:n.-196C>T
ENST00000299314.11:c.-196C>T ENSP00000299314.7:n.-196C>T
NM_024312.5:c.-196C>T MANE Select NP_077288.2:n.-196C>T
Search 100 bp 5'
Search 100 bp 3'