Canonical Allele Identifier: CA391630093
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084373A>C (hg19) chr15:g.34792172A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792172A>C , CM000677.2:g.34792172A>C GRCh38
NC_000015.9:g.35084373A>C , CM000677.1:g.35084373A>C GRCh37
NC_000015.8:g.32871665A>C NCBI36
NG_007553.1:g.8555T>G , LRG_388:g.8555T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.832T>G (ACTC1)
ENST00000290378.6:c.726T>G (ACTC1) MANE Select ENSP00000290378.4:p.Tyr242Ter
ENST00000647798.1:n.820T>G (ACTC1)
ENST00000650163.1:n.806T>G (ACTC1)
ENST00000290378.4:c.726T>G (ACTC1) ENSP00000290378.4:p.Tyr242Ter
ENST00000557860.1:n.416T>G (ACTC1)
ENST00000560563.1:n.225T>G (ACTC1)
NM_005159.4:c.726T>G , LRG_388t1:c.726T>G (ACTC1) NP_005150.1:p.Tyr242Ter
NR_120329.1:n.299+14741A>C (GJD2-DT)
NM_005159.5:c.726T>G (ACTC1) MANE Select NP_005150.1:p.Tyr242Ter
Search 100 bp 5'
Search 100 bp 3'