Canonical Allele Identifier: CA391629714
Gene: ACTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792104T>C , CM000677.2:g.34792104T>C GRCh38
NC_000015.9:g.35084305T>C , CM000677.1:g.35084305T>C GRCh37
NC_000015.8:g.32871597T>C NCBI36
NG_007553.1:g.8623A>G , LRG_388:g.8623A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.794A>G MANE Select ENSP00000290378.4:p.Gln265Arg
ENST00000647798.1:n.888A>G
ENST00000650163.1:n.874A>G
ENST00000290378.4:c.794A>G ENSP00000290378.4:p.Gln265Arg
ENST00000557860.1:n.484A>G
ENST00000560563.1:n.293A>G
NM_005159.4:c.794A>G , LRG_388t1:c.794A>G NP_005150.1:p.Gln265Arg
NR_120329.1:n.299+14673T>C
NM_005159.5:c.794A>G MANE Select NP_005150.1:p.Gln265Arg