Canonical Allele Identifier: CA617555406

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1396899572
• gnomAD v2: 15-35084522-A-T
• gnomAD v4: 15-34792321-A-T
• MyVariant Identifiers: chr15:g.35084522A>T (hg19) ; chr15:g.34792321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792321A>T , CM000677.2:g.34792321A>T	GRCh38
NC_000015.9:g.35084522A>T , CM000677.1:g.35084522A>T	GRCh37
NC_000015.8:g.32871814A>T	NCBI36
NG_007553.1:g.8406T>A , LRG_388:g.8406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-40T>A (ACTC1)
ENST00000290378.6:c.617-40T>A (ACTC1) MANE Select	ENSP00000290378.4:n.617-40T>A
ENST00000647798.1:n.711-40T>A (ACTC1)
ENST00000648556.1:n.774-40T>A (ACTC1)
ENST00000650163.1:n.697-40T>A (ACTC1)
ENST00000290378.4:c.617-40T>A (ACTC1)	ENSP00000290378.4:n.617-40T>A
ENST00000557860.1:n.307-40T>A (ACTC1)
ENST00000560563.1:n.116-40T>A (ACTC1)
NM_005159.4:c.617-40T>A , LRG_388t1:c.617-40T>A (ACTC1)	NP_005150.1:n.617-40T>A
NR_120329.1:n.299+14890A>T (GJD2-DT)
NM_005159.5:c.617-40T>A (ACTC1) MANE Select	NP_005150.1:n.617-40T>A