Canonical Allele Identifier: CA268664202

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1045679929
• gnomAD v2: 15-35086468-T-G
• gnomAD v3: 15-34794267-T-G
• gnomAD v4: 15-34794267-T-G
• MyVariant Identifiers: chr15:g.35086468T>G (hg19) ; chr15:g.34794267T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794267T>G , CM000677.2:g.34794267T>G	GRCh38
NC_000015.9:g.35086468T>G , CM000677.1:g.35086468T>G	GRCh37
NC_000015.8:g.32873760T>G	NCBI36
NG_007553.1:g.6460A>C , LRG_388:g.6460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.235+413A>C (ACTC1)
ENST00000290378.6:c.129+413A>C (ACTC1) MANE Select	ENSP00000290378.4:n.129+413A>C
ENST00000290378.4:c.129+413A>C (ACTC1)	ENSP00000290378.4:n.129+413A>C
NM_005159.4:c.129+413A>C , LRG_388t1:c.129+413A>C (ACTC1)	NP_005150.1:n.129+413A>C
NR_120329.1:n.300-16229T>G (GJD2-DT)
NM_005159.5:c.129+413A>C (ACTC1) MANE Select	NP_005150.1:n.129+413A>C