Canonical Allele Identifier: CA489655428

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084640G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792439G>C , CM000677.2:g.34792439G>C	GRCh38
NC_000015.9:g.35084640G>C , CM000677.1:g.35084640G>C	GRCh37
NC_000015.8:g.32871932G>C	NCBI36
NG_007553.1:g.8288C>G , LRG_388:g.8288C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.691C>G (ACTC1)
ENST00000290378.6:c.585C>G (ACTC1) MANE Select	ENSP00000290378.4:p.Leu195=
ENST00000647798.1:n.679C>G (ACTC1)
ENST00000648556.1:n.742C>G (ACTC1)
ENST00000650163.1:n.665C>G (ACTC1)
ENST00000290378.4:c.585C>G (ACTC1)	ENSP00000290378.4:p.Leu195=
ENST00000557860.1:n.275C>G (ACTC1)
ENST00000560563.1:n.84C>G (ACTC1)
NM_005159.4:c.585C>G , LRG_388t1:c.585C>G (ACTC1)	NP_005150.1:p.Leu195=
NR_120329.1:n.299+15008G>C (GJD2-DT)
NM_005159.5:c.585C>G (ACTC1) MANE Select	NP_005150.1:p.Leu195=