Canonical Allele Identifier: CA391630948

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084656T>C (hg19) ; chr15:g.34792455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792455T>C , CM000677.2:g.34792455T>C	GRCh38
NC_000015.9:g.35084656T>C , CM000677.1:g.35084656T>C	GRCh37
NC_000015.8:g.32871948T>C	NCBI36
NG_007553.1:g.8272A>G , LRG_388:g.8272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.675A>G (ACTC1)
ENST00000290378.6:c.569A>G (ACTC1) MANE Select	ENSP00000290378.4:p.Tyr190Cys
ENST00000647798.1:n.663A>G (ACTC1)
ENST00000648556.1:n.726A>G (ACTC1)
ENST00000650163.1:n.649A>G (ACTC1)
ENST00000290378.4:c.569A>G (ACTC1)	ENSP00000290378.4:p.Tyr190Cys
ENST00000557860.1:n.259A>G (ACTC1)
ENST00000560563.1:n.68A>G (ACTC1)
NM_005159.4:c.569A>G , LRG_388t1:c.569A>G (ACTC1)	NP_005150.1:p.Tyr190Cys
NR_120329.1:n.299+15024T>C (GJD2-DT)
NM_005159.5:c.569A>G (ACTC1) MANE Select	NP_005150.1:p.Tyr190Cys