Canonical Allele Identifier: CA367304555
Gene: RALA HGNC NCBI

Linked Data

ClinVar Variation Id: 521019
dbSNP Id: rs1554297905
gnomAD v4: 7-39686740-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.39686740G>A , CM000669.2:g.39686740G>A GRCh38
NC_000007.13:g.39726339G>A , CM000669.1:g.39726339G>A GRCh37
NC_000007.12:g.39692864G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000005257.7:c.73G>A MANE Select ENSP00000005257.2:p.Val25Met
ENST00000005257.6:c.73G>A ENSP00000005257.2:p.Val25Met
ENST00000434466.1:c.54G>A
ENST00000436179.1:c.73G>A ENSP00000388975.1:p.Val25Met
ENST00000468201.1:n.262-9945G>A
NM_005402.3:c.73G>A NP_005393.2:p.Val25Met
XM_006715762.2:c.73G>A XP_006715825.1:p.Val25Met
XM_011515466.1:c.73G>A XP_011513768.1:p.Val25Met
XM_006715762.3:c.73G>A XP_006715825.1:p.Val25Met
NM_005402.4:c.73G>A MANE Select NP_005393.2:p.Val25Met