Canonical Allele Identifier: CA041026

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs139651417
• ExAC: 15:35085797 A / G
• gnomAD v2: 15-35085797-A-G
• gnomAD v3: 15-34793596-A-G
• gnomAD v4: 15-34793596-A-G
• MyVariant Identifiers: chr15:g.35085797A>G (hg19) ; chr15:g.34793596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793596A>G , CM000677.2:g.34793596A>G	GRCh38
NC_000015.9:g.35085797A>G , CM000677.1:g.35085797A>G	GRCh37
NC_000015.8:g.32873089A>G	NCBI36
NG_007553.1:g.7131T>C , LRG_388:g.7131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-27T>C (ACTC1)
ENST00000290378.6:c.130-27T>C (ACTC1) MANE Select	ENSP00000290378.4:n.130-27T>C
ENST00000647798.1:n.277-27T>C (ACTC1)
ENST00000648556.1:n.287-27T>C (ACTC1)
ENST00000650163.1:n.210-27T>C (ACTC1)
ENST00000290378.4:c.130-27T>C (ACTC1)	ENSP00000290378.4:n.130-27T>C
NM_005159.4:c.130-27T>C , LRG_388t1:c.130-27T>C (ACTC1)	NP_005150.1:n.130-27T>C
NR_120329.1:n.299+16165A>G (GJD2-DT)
NM_005159.5:c.130-27T>C (ACTC1) MANE Select	NP_005150.1:n.130-27T>C