Canonical Allele Identifier: CA019762
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18327
ClinVar RCV Id: RCV000019992
dbSNP Id: rs121912677

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793326T>C , CM000677.2:g.34793326T>C GRCh38
NC_000015.9:g.35085527T>C , CM000677.1:g.35085527T>C GRCh37
NC_000015.8:g.32872819T>C NCBI36
NG_007553.1:g.7401A>G , LRG_388:g.7401A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.373A>G MANE Select ENSP00000290378.4:p.Met125Val
ENST00000647798.1:n.520A>G
ENST00000648556.1:n.530A>G
ENST00000650163.1:n.453A>G
ENST00000290378.4:c.373A>G ENSP00000290378.4:p.Met125Val
NM_005159.4:c.373A>G , LRG_388t1:c.373A>G NP_005150.1:p.Met125Val
NR_120329.1:n.299+15895T>C
NM_005159.5:c.373A>G MANE Select NP_005150.1:p.Met125Val