Canonical Allele Identifier: CA2058985362
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1961124595
gnomAD v4: 12-101830904-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830904T>G , CM000674.2:g.101830904T>G GRCh38
NC_000012.11:g.102224682T>G , CM000674.1:g.102224682T>G GRCh37
NC_000012.10:g.100748813T>G NCBI36
NG_021243.1:g.4964A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-229A>C MANE Select ENSP00000299314.7:n.-229A>C
ENST00000299314.11:c.-229A>C ENSP00000299314.7:n.-229A>C
NM_024312.5:c.-229A>C MANE Select NP_077288.2:n.-229A>C
Search 100 bp 5'
Search 100 bp 3'