Canonical Allele Identifier: CA391630899

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1809768
• ClinVar RCV Id: RCV002505983
• MyVariant Identifiers: chr15:g.35084635T>C (hg19) ; chr15:g.34792434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792434T>C , CM000677.2:g.34792434T>C	GRCh38
NC_000015.9:g.35084635T>C , CM000677.1:g.35084635T>C	GRCh37
NC_000015.8:g.32871927T>C	NCBI36
NG_007553.1:g.8293A>G , LRG_388:g.8293A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.696A>G (ACTC1)
ENST00000290378.6:c.590A>G (ACTC1) MANE Select	ENSP00000290378.4:p.Glu197Gly
ENST00000647798.1:n.684A>G (ACTC1)
ENST00000648556.1:n.747A>G (ACTC1)
ENST00000650163.1:n.670A>G (ACTC1)
ENST00000290378.4:c.590A>G (ACTC1)	ENSP00000290378.4:p.Glu197Gly
ENST00000557860.1:n.280A>G (ACTC1)
ENST00000560563.1:n.89A>G (ACTC1)
NM_005159.4:c.590A>G , LRG_388t1:c.590A>G (ACTC1)	NP_005150.1:p.Glu197Gly
NR_120329.1:n.299+15003T>C (GJD2-DT)
NM_005159.5:c.590A>G (ACTC1) MANE Select	NP_005150.1:p.Glu197Gly