Canonical Allele Identifier: CA489655495

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2442857
• ClinVar RCV Id: RCV003150663
• MyVariant Identifiers: chr15:g.35084709A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792508A>C , CM000677.2:g.34792508A>C	GRCh38
NC_000015.9:g.35084709A>C , CM000677.1:g.35084709A>C	GRCh37
NC_000015.8:g.32872001A>C	NCBI36
NG_007553.1:g.8219T>G , LRG_388:g.8219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.622T>G (ACTC1)
ENST00000290378.6:c.516T>G (ACTC1) MANE Select	ENSP00000290378.4:p.Ala172=
ENST00000647798.1:n.610T>G (ACTC1)
ENST00000648556.1:n.673T>G (ACTC1)
ENST00000650163.1:n.596T>G (ACTC1)
ENST00000290378.4:c.516T>G (ACTC1)	ENSP00000290378.4:p.Ala172=
ENST00000557860.1:n.206T>G (ACTC1)
ENST00000560563.1:n.15T>G (ACTC1)
NM_005159.4:c.516T>G , LRG_388t1:c.516T>G (ACTC1)	NP_005150.1:p.Ala172=
NR_120329.1:n.299+15077A>C (GJD2-DT)
NM_005159.5:c.516T>G (ACTC1) MANE Select	NP_005150.1:p.Ala172=