Canonical Allele Identifier: CA391630957

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1352174
• ClinVar RCV Id: RCV002047399
• dbSNP Id: rs2140430890
• MyVariant Identifiers: chr15:g.35084659T>G (hg19) ; chr15:g.34792458T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792458T>G , CM000677.2:g.34792458T>G	GRCh38
NC_000015.9:g.35084659T>G , CM000677.1:g.35084659T>G	GRCh37
NC_000015.8:g.32871951T>G	NCBI36
NG_007553.1:g.8269A>C , LRG_388:g.8269A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.672A>C (ACTC1)
ENST00000290378.6:c.566A>C (ACTC1) MANE Select	ENSP00000290378.4:p.Asp189Ala
ENST00000647798.1:n.660A>C (ACTC1)
ENST00000648556.1:n.723A>C (ACTC1)
ENST00000650163.1:n.646A>C (ACTC1)
ENST00000290378.4:c.566A>C (ACTC1)	ENSP00000290378.4:p.Asp189Ala
ENST00000557860.1:n.256A>C (ACTC1)
ENST00000560563.1:n.65A>C (ACTC1)
NM_005159.4:c.566A>C , LRG_388t1:c.566A>C (ACTC1)	NP_005150.1:p.Asp189Ala
NR_120329.1:n.299+15027T>G (GJD2-DT)
NM_005159.5:c.566A>C (ACTC1) MANE Select	NP_005150.1:p.Asp189Ala