Canonical Allele Identifier: CA391630892

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792431-C-T
• COSMIC: COSM5648016
• MyVariant Identifiers: chr15:g.35084632C>T (hg19) ; chr15:g.34792431C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792431C>T , CM000677.2:g.34792431C>T	GRCh38
NC_000015.9:g.35084632C>T , CM000677.1:g.35084632C>T	GRCh37
NC_000015.8:g.32871924C>T	NCBI36
NG_007553.1:g.8296G>A , LRG_388:g.8296G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.699G>A (ACTC1)
ENST00000290378.6:c.593G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Arg198His
ENST00000647798.1:n.687G>A (ACTC1)
ENST00000648556.1:n.750G>A (ACTC1)
ENST00000650163.1:n.673G>A (ACTC1)
ENST00000290378.4:c.593G>A (ACTC1)	ENSP00000290378.4:p.Arg198His
ENST00000557860.1:n.283G>A (ACTC1)
ENST00000560563.1:n.92G>A (ACTC1)
NM_005159.4:c.593G>A , LRG_388t1:c.593G>A (ACTC1)	NP_005150.1:p.Arg198His
NR_120329.1:n.299+15000C>T (GJD2-DT)
NM_005159.5:c.593G>A (ACTC1) MANE Select	NP_005150.1:p.Arg198His