Canonical Allele Identifier: CA268660450

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1045622822
• gnomAD v3: 15-34790765-T-C
• gnomAD v4: 15-34790765-T-C
• MyVariant Identifiers: chr15:g.35082966T>C (hg19) ; chr15:g.34790765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790765T>C , CM000677.2:g.34790765T>C	GRCh38
NC_000015.9:g.35082966T>C , CM000677.1:g.35082966T>C	GRCh37
NC_000015.8:g.32870258T>C	NCBI36
NG_007553.1:g.9962A>G , LRG_388:g.9962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-210A>G (ACTC1)
ENST00000290378.6:c.991-210A>G (ACTC1) MANE Select	ENSP00000290378.4:n.991-210A>G
ENST00000647798.1:n.1085-210A>G (ACTC1)
ENST00000650163.1:n.1071-210A>G (ACTC1)
ENST00000290378.4:c.991-210A>G (ACTC1)	ENSP00000290378.4:n.991-210A>G
NM_005159.4:c.991-210A>G , LRG_388t1:c.991-210A>G (ACTC1)	NP_005150.1:n.991-210A>G
NR_120329.1:n.299+13334T>C (GJD2-DT)
NM_005159.5:c.991-210A>G (ACTC1) MANE Select	NP_005150.1:n.991-210A>G