Canonical Allele Identifier: CA712279878

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1279842190
• gnomAD v3: 15-34792307-C-A
• gnomAD v4: 15-34792307-C-A
• MyVariant Identifiers: chr15:g.35084508C>A (hg19) ; chr15:g.34792307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792307C>A , CM000677.2:g.34792307C>A	GRCh38
NC_000015.9:g.35084508C>A , CM000677.1:g.35084508C>A	GRCh37
NC_000015.8:g.32871800C>A	NCBI36
NG_007553.1:g.8420G>T , LRG_388:g.8420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-26G>T (ACTC1)
ENST00000290378.6:c.617-26G>T (ACTC1) MANE Select	ENSP00000290378.4:n.617-26G>T
ENST00000647798.1:n.711-26G>T (ACTC1)
ENST00000648556.1:n.774-26G>T (ACTC1)
ENST00000650163.1:n.697-26G>T (ACTC1)
ENST00000290378.4:c.617-26G>T (ACTC1)	ENSP00000290378.4:n.617-26G>T
ENST00000557860.1:n.307-26G>T (ACTC1)
ENST00000560563.1:n.116-26G>T (ACTC1)
NM_005159.4:c.617-26G>T , LRG_388t1:c.617-26G>T (ACTC1)	NP_005150.1:n.617-26G>T
NR_120329.1:n.299+14876C>A (GJD2-DT)
NM_005159.5:c.617-26G>T (ACTC1) MANE Select	NP_005150.1:n.617-26G>T