Canonical Allele Identifier: CA682766093
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1231615460
gnomAD v4: 12-101830878-C-T
MyVariant Identifiers: chr12:g.102224656C>T (hg19) chr12:g.101830878C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830878C>T , CM000674.2:g.101830878C>T GRCh38
NC_000012.11:g.102224656C>T , CM000674.1:g.102224656C>T GRCh37
NC_000012.10:g.100748787C>T NCBI36
NG_021243.1:g.4990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-203G>A MANE Select ENSP00000299314.7:n.-203G>A
ENST00000299314.11:c.-203G>A ENSP00000299314.7:n.-203G>A
NM_024312.5:c.-203G>A MANE Select NP_077288.2:n.-203G>A
Search 100 bp 5'
Search 100 bp 3'