Canonical Allele Identifier: CA391630878

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792425-T-C
• MyVariant Identifiers: chr15:g.35084626T>C (hg19) ; chr15:g.34792425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792425T>C , CM000677.2:g.34792425T>C	GRCh38
NC_000015.9:g.35084626T>C , CM000677.1:g.35084626T>C	GRCh37
NC_000015.8:g.32871918T>C	NCBI36
NG_007553.1:g.8302A>G , LRG_388:g.8302A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.705A>G (ACTC1)
ENST00000290378.6:c.599A>G (ACTC1) MANE Select	ENSP00000290378.4:p.Tyr200Cys
ENST00000647798.1:n.693A>G (ACTC1)
ENST00000648556.1:n.756A>G (ACTC1)
ENST00000650163.1:n.679A>G (ACTC1)
ENST00000290378.4:c.599A>G (ACTC1)	ENSP00000290378.4:p.Tyr200Cys
ENST00000557860.1:n.289A>G (ACTC1)
ENST00000560563.1:n.98A>G (ACTC1)
NM_005159.4:c.599A>G , LRG_388t1:c.599A>G (ACTC1)	NP_005150.1:p.Tyr200Cys
NR_120329.1:n.299+14994T>C (GJD2-DT)
NM_005159.5:c.599A>G (ACTC1) MANE Select	NP_005150.1:p.Tyr200Cys