Canonical Allele Identifier: CA606290
Gene: PRAMEF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403338
ClinVar RCV Id: RCV000455224
dbSNP Id: rs76193255
ExAC: 1:12854097 T / C
gnomAD v2: 1-12854097-T-C
gnomAD v4: 1-12793948-T-C
MyVariant Identifiers: chr1:g.12854097T>C (hg19) chr1:g.12793948T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12793948T>C , CM000663.2:g.12793948T>C GRCh38
NC_000001.10:g.12854097T>C , CM000663.1:g.12854097T>C GRCh37
NC_000001.9:g.12776684T>C NCBI36
NG_027549.2:g.7546T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000332296.7:c.321T>C MANE Select ENSP00000332134.7:p.Asp107=
NM_023013.4:c.321T>C MANE Select NP_075389.2:p.Asp107=
Search 100 bp 5'
Search 100 bp 3'