Canonical Allele Identifier: CA019869
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35647
ClinVar RCV Id: RCV000029294
dbSNP Id: rs193922681

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794742A>G , CM000677.2:g.34794742A>G GRCh38
NC_000015.9:g.35086943A>G , CM000677.1:g.35086943A>G GRCh37
NC_000015.8:g.32874235A>G NCBI36
NG_007553.1:g.5985T>C , LRG_388:g.5985T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.67T>C MANE Select ENSP00000290378.4:p.Phe23Leu
ENST00000290378.4:c.67T>C ENSP00000290378.4:p.Phe23Leu
NM_005159.4:c.67T>C , LRG_388t1:c.67T>C NP_005150.1:p.Phe23Leu
NR_120329.1:n.300-15754A>G
NM_005159.5:c.67T>C MANE Select NP_005150.1:p.Phe23Leu