Canonical Allele Identifier: CA2580089300

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2034630
• ClinVar RCV Id: RCV002868032

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794672A>T , CM000677.2:g.34794672A>T	GRCh38
NC_000015.9:g.35086873A>T , CM000677.1:g.35086873A>T	GRCh37
NC_000015.8:g.32874165A>T	NCBI36
NG_007553.1:g.6055T>A , LRG_388:g.6055T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.235+8T>A (ACTC1)
ENST00000290378.6:c.129+8T>A (ACTC1) MANE Select	ENSP00000290378.4:n.129+8T>A
ENST00000290378.4:c.129+8T>A (ACTC1)	ENSP00000290378.4:n.129+8T>A
NM_005159.4:c.129+8T>A , LRG_388t1:c.129+8T>A (ACTC1)	NP_005150.1:n.129+8T>A
NR_120329.1:n.300-15824A>T (GJD2-DT)
NM_005159.5:c.129+8T>A (ACTC1) MANE Select	NP_005150.1:n.129+8T>A