Canonical Allele Identifier: CA367307205
Gene: RALA HGNC NCBI

Linked Data

ClinVar Variation Id: 517138
ClinVar RCV Id: RCV000613992
dbSNP Id: rs1204820978
gnomAD v4: 7-39706150-C-T
COSMIC: COSM136597
MyVariant Identifiers: chr7:g.39745749C>T (hg19) chr7:g.39706150C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.39706150C>T , CM000669.2:g.39706150C>T GRCh38
NC_000007.13:g.39745749C>T , CM000669.1:g.39745749C>T GRCh37
NC_000007.12:g.39712274C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000005257.7:c.526C>T MANE Select ENSP00000005257.2:p.Arg176Ter
ENST00000005257.6:c.526C>T ENSP00000005257.2:p.Arg176Ter
ENST00000434466.1:c.610C>T
ENST00000466491.1:n.168C>T
ENST00000468201.1:n.464C>T
NM_005402.3:c.526C>T NP_005393.2:p.Arg176Ter
XM_006715762.2:c.526C>T XP_006715825.1:p.Arg176Ter
XM_011515466.1:c.526C>T XP_011513768.1:p.Arg176Ter
XM_006715762.3:c.526C>T XP_006715825.1:p.Arg176Ter
NM_005402.4:c.526C>T MANE Select NP_005393.2:p.Arg176Ter
Search 100 bp 5'
Search 100 bp 3'