Canonical Allele Identifier: CA391631051

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2157713
• ClinVar RCV Id: RCV003079650
• gnomAD v4: 15-34792504-G-T
• MyVariant Identifiers: chr15:g.35084705G>T (hg19) ; chr15:g.34792504G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792504G>T , CM000677.2:g.34792504G>T	GRCh38
NC_000015.9:g.35084705G>T , CM000677.1:g.35084705G>T	GRCh37
NC_000015.8:g.32871997G>T	NCBI36
NG_007553.1:g.8223C>A , LRG_388:g.8223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.626C>A (ACTC1)
ENST00000290378.6:c.520C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Pro174Thr
ENST00000647798.1:n.614C>A (ACTC1)
ENST00000648556.1:n.677C>A (ACTC1)
ENST00000650163.1:n.600C>A (ACTC1)
ENST00000290378.4:c.520C>A (ACTC1)	ENSP00000290378.4:p.Pro174Thr
ENST00000557860.1:n.210C>A (ACTC1)
ENST00000560563.1:n.19C>A (ACTC1)
NM_005159.4:c.520C>A , LRG_388t1:c.520C>A (ACTC1)	NP_005150.1:p.Pro174Thr
NR_120329.1:n.299+15073G>T (GJD2-DT)
NM_005159.5:c.520C>A (ACTC1) MANE Select	NP_005150.1:p.Pro174Thr