Canonical Allele Identifier: CA489655419

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1674358
• ClinVar RCV Id: RCV002206613 ; RCV003382871
• dbSNP Id: rs1595760921
• MyVariant Identifiers: chr15:g.35084628G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792427G>T , CM000677.2:g.34792427G>T	GRCh38
NC_000015.9:g.35084628G>T , CM000677.1:g.35084628G>T	GRCh37
NC_000015.8:g.32871920G>T	NCBI36
NG_007553.1:g.8300C>A , LRG_388:g.8300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.703C>A (ACTC1)
ENST00000290378.6:c.597C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Gly199=
ENST00000647798.1:n.691C>A (ACTC1)
ENST00000648556.1:n.754C>A (ACTC1)
ENST00000650163.1:n.677C>A (ACTC1)
ENST00000290378.4:c.597C>A (ACTC1)	ENSP00000290378.4:p.Gly199=
ENST00000557860.1:n.287C>A (ACTC1)
ENST00000560563.1:n.96C>A (ACTC1)
NM_005159.4:c.597C>A , LRG_388t1:c.597C>A (ACTC1)	NP_005150.1:p.Gly199=
NR_120329.1:n.299+14996G>T (GJD2-DT)
NM_005159.5:c.597C>A (ACTC1) MANE Select	NP_005150.1:p.Gly199=