Canonical Allele Identifier: CA391629697
Gene: ACTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792096A>C , CM000677.2:g.34792096A>C GRCh38
NC_000015.9:g.35084297A>C , CM000677.1:g.35084297A>C GRCh37
NC_000015.8:g.32871589A>C NCBI36
NG_007553.1:g.8631T>G , LRG_388:g.8631T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.802T>G MANE Select ENSP00000290378.4:p.Phe268Val
ENST00000647798.1:n.896T>G
ENST00000650163.1:n.882T>G
ENST00000290378.4:c.802T>G ENSP00000290378.4:p.Phe268Val
ENST00000557860.1:n.492T>G
ENST00000560563.1:n.301T>G
NM_005159.4:c.802T>G , LRG_388t1:c.802T>G NP_005150.1:p.Phe268Val
NR_120329.1:n.299+14665A>C
NM_005159.5:c.802T>G MANE Select NP_005150.1:p.Phe268Val