Canonical Allele Identifier: CA2620450903
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs2137198348
gnomAD v4: 12-101830851-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830851C>A , CM000674.2:g.101830851C>A GRCh38
NC_000012.11:g.102224629C>A , CM000674.1:g.102224629C>A GRCh37
NC_000012.10:g.100748760C>A NCBI36
NG_021243.1:g.5017G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-176G>T MANE Select ENSP00000299314.7:n.-176G>T
ENST00000299314.11:c.-176G>T ENSP00000299314.7:n.-176G>T
NM_024312.4:c.-176G>T NP_077288.2:n.-176G>T
XM_006719593.2:c.-176G>T XP_006719656.1:n.-176G>T
NM_024312.5:c.-176G>T MANE Select NP_077288.2:n.-176G>T
Search 100 bp 5'
Search 100 bp 3'