Canonical Allele Identifier: CA391632039

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35085714G>T (hg19) ; chr15:g.34793513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793513G>T , CM000677.2:g.34793513G>T	GRCh38
NC_000015.9:g.35085714G>T , CM000677.1:g.35085714G>T	GRCh37
NC_000015.8:g.32873006G>T	NCBI36
NG_007553.1:g.7214C>A , LRG_388:g.7214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.292C>A (ACTC1)
ENST00000290378.6:c.186C>A (ACTC1) MANE Select	ENSP00000290378.4:p.Ser62Arg
ENST00000647798.1:n.333C>A (ACTC1)
ENST00000648556.1:n.343C>A (ACTC1)
ENST00000650163.1:n.266C>A (ACTC1)
ENST00000290378.4:c.186C>A (ACTC1)	ENSP00000290378.4:p.Ser62Arg
NM_005159.4:c.186C>A , LRG_388t1:c.186C>A (ACTC1)	NP_005150.1:p.Ser62Arg
NR_120329.1:n.299+16082G>T (GJD2-DT)
NM_005159.5:c.186C>A (ACTC1) MANE Select	NP_005150.1:p.Ser62Arg