Canonical Allele Identifier: CA391631046

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1305594
• ClinVar RCV Id: RCV001768801
• dbSNP Id: rs2140430949
• MyVariant Identifiers: chr15:g.35084704G>A (hg19) ; chr15:g.34792503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792503G>A , CM000677.2:g.34792503G>A	GRCh38
NC_000015.9:g.35084704G>A , CM000677.1:g.35084704G>A	GRCh37
NC_000015.8:g.32871996G>A	NCBI36
NG_007553.1:g.8224C>T , LRG_388:g.8224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.627C>T (ACTC1)
ENST00000290378.6:c.521C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Pro174Leu
ENST00000647798.1:n.615C>T (ACTC1)
ENST00000648556.1:n.678C>T (ACTC1)
ENST00000650163.1:n.601C>T (ACTC1)
ENST00000290378.4:c.521C>T (ACTC1)	ENSP00000290378.4:p.Pro174Leu
ENST00000557860.1:n.211C>T (ACTC1)
ENST00000560563.1:n.20C>T (ACTC1)
NM_005159.4:c.521C>T , LRG_388t1:c.521C>T (ACTC1)	NP_005150.1:p.Pro174Leu
NR_120329.1:n.299+15072G>A (GJD2-DT)
NM_005159.5:c.521C>T (ACTC1) MANE Select	NP_005150.1:p.Pro174Leu