Canonical Allele Identifier: CA041691

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs748053539
• ExAC: 15:35082578 T / C
• gnomAD v2: 15-35082578-T-C
• gnomAD v4: 15-34790377-T-C
• MyVariant Identifiers: chr15:g.35082578T>C (hg19) ; chr15:g.34790377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790377T>C , CM000677.2:g.34790377T>C	GRCh38
NC_000015.9:g.35082578T>C , CM000677.1:g.35082578T>C	GRCh37
NC_000015.8:g.32869870T>C	NCBI36
NG_007553.1:g.10350A>G , LRG_388:g.10350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.2069A>G (ACTC1)
ENST00000290378.6:c.*35A>G (ACTC1) MANE Select	ENSP00000290378.4:n.*35A>G
ENST00000647798.1:n.1263A>G (ACTC1)
ENST00000650163.1:n.1249A>G (ACTC1)
ENST00000290378.4:c.*35A>G (ACTC1)	ENSP00000290378.4:n.*35A>G
NM_005159.4:c.*35A>G , LRG_388t1:c.*35A>G (ACTC1)	NP_005150.1:n.*35A>G
NR_120329.1:n.299+12946T>C (GJD2-DT)
NM_005159.5:c.*35A>G (ACTC1) MANE Select	NP_005150.1:n.*35A>G