Canonical Allele Identifier: CA391630735

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084454T>A (hg19) ; chr15:g.34792253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792253T>A , CM000677.2:g.34792253T>A	GRCh38
NC_000015.9:g.35084454T>A , CM000677.1:g.35084454T>A	GRCh37
NC_000015.8:g.32871746T>A	NCBI36
NG_007553.1:g.8474A>T , LRG_388:g.8474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.751A>T (ACTC1)
ENST00000290378.6:c.645A>T (ACTC1) MANE Select	ENSP00000290378.4:p.Lys215Asn
ENST00000647798.1:n.739A>T (ACTC1)
ENST00000648556.1:n.802A>T (ACTC1)
ENST00000650163.1:n.725A>T (ACTC1)
ENST00000290378.4:c.645A>T (ACTC1)	ENSP00000290378.4:p.Lys215Asn
ENST00000557860.1:n.335A>T (ACTC1)
ENST00000560563.1:n.144A>T (ACTC1)
NM_005159.4:c.645A>T , LRG_388t1:c.645A>T (ACTC1)	NP_005150.1:p.Lys215Asn
NR_120329.1:n.299+14822T>A (GJD2-DT)
NM_005159.5:c.645A>T (ACTC1) MANE Select	NP_005150.1:p.Lys215Asn