Canonical Allele Identifier: CA489655474

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35085696G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793495G>C , CM000677.2:g.34793495G>C	GRCh38
NC_000015.9:g.35085696G>C , CM000677.1:g.35085696G>C	GRCh37
NC_000015.8:g.32872988G>C	NCBI36
NG_007553.1:g.7232C>G , LRG_388:g.7232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.310C>G (ACTC1)
ENST00000290378.6:c.204C>G (ACTC1) MANE Select	ENSP00000290378.4:p.Thr68=
ENST00000647798.1:n.351C>G (ACTC1)
ENST00000648556.1:n.361C>G (ACTC1)
ENST00000650163.1:n.284C>G (ACTC1)
ENST00000290378.4:c.204C>G (ACTC1)	ENSP00000290378.4:p.Thr68=
NM_005159.4:c.204C>G , LRG_388t1:c.204C>G (ACTC1)	NP_005150.1:p.Thr68=
NR_120329.1:n.299+16064G>C (GJD2-DT)
NM_005159.5:c.204C>G (ACTC1) MANE Select	NP_005150.1:p.Thr68=