Canonical Allele Identifier: CA242320064
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1057288333
gnomAD v2: 12-102224677-G-T
gnomAD v3: 12-101830899-G-T
gnomAD v4: 12-101830899-G-T
MyVariant Identifiers: chr12:g.102224677G>T (hg19) chr12:g.101830899G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830899G>T , CM000674.2:g.101830899G>T GRCh38
NC_000012.11:g.102224677G>T , CM000674.1:g.102224677G>T GRCh37
NC_000012.10:g.100748808G>T NCBI36
NG_021243.1:g.4969C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-224C>A MANE Select ENSP00000299314.7:n.-224C>A
ENST00000299314.11:c.-224C>A ENSP00000299314.7:n.-224C>A
NM_024312.5:c.-224C>A MANE Select NP_077288.2:n.-224C>A
Search 100 bp 5'
Search 100 bp 3'