Canonical Allele Identifier: CA489655423

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084634C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792433C>T , CM000677.2:g.34792433C>T	GRCh38
NC_000015.9:g.35084634C>T , CM000677.1:g.35084634C>T	GRCh37
NC_000015.8:g.32871926C>T	NCBI36
NG_007553.1:g.8294G>A , LRG_388:g.8294G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.697G>A (ACTC1)
ENST00000290378.6:c.591G>A (ACTC1) MANE Select	ENSP00000290378.4:p.Glu197=
ENST00000647798.1:n.685G>A (ACTC1)
ENST00000648556.1:n.748G>A (ACTC1)
ENST00000650163.1:n.671G>A (ACTC1)
ENST00000290378.4:c.591G>A (ACTC1)	ENSP00000290378.4:p.Glu197=
ENST00000557860.1:n.281G>A (ACTC1)
ENST00000560563.1:n.90G>A (ACTC1)
NM_005159.4:c.591G>A , LRG_388t1:c.591G>A (ACTC1)	NP_005150.1:p.Glu197=
NR_120329.1:n.299+15002C>T (GJD2-DT)
NM_005159.5:c.591G>A (ACTC1) MANE Select	NP_005150.1:p.Glu197=