Canonical Allele Identifier: CA617197343

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1166355534
• gnomAD v2: 15-35085313-C-G
• gnomAD v4: 15-34793112-C-G
• MyVariant Identifiers: chr15:g.35085313C>G (hg19) ; chr15:g.34793112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793112C>G , CM000677.2:g.34793112C>G	GRCh38
NC_000015.9:g.35085313C>G , CM000677.1:g.35085313C>G	GRCh37
NC_000015.8:g.32872605C>G	NCBI36
NG_007553.1:g.7615G>C , LRG_388:g.7615G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+133G>C (ACTC1)
ENST00000290378.6:c.454+133G>C (ACTC1) MANE Select	ENSP00000290378.4:n.454+133G>C
ENST00000647798.1:n.548+186G>C (ACTC1)
ENST00000648556.1:n.611+133G>C (ACTC1)
ENST00000650163.1:n.534+133G>C (ACTC1)
ENST00000290378.4:c.454+133G>C (ACTC1)	ENSP00000290378.4:n.454+133G>C
NM_005159.4:c.454+133G>C , LRG_388t1:c.454+133G>C (ACTC1)	NP_005150.1:n.454+133G>C
NR_120329.1:n.299+15681C>G (GJD2-DT)
NM_005159.5:c.454+133G>C (ACTC1) MANE Select	NP_005150.1:n.454+133G>C