Canonical Allele Identifier: CA391630812

Gene: ACTC1 GJD2-DT

Linked Data

• MyVariant Identifiers: chr15:g.35084472T>A (hg19) ; chr15:g.34792271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792271T>A , CM000677.2:g.34792271T>A	GRCh38
NC_000015.9:g.35084472T>A , CM000677.1:g.35084472T>A	GRCh37
NC_000015.8:g.32871764T>A	NCBI36
NG_007553.1:g.8456A>T , LRG_388:g.8456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.733A>T (ACTC1)
ENST00000290378.6:c.627A>T (ACTC1) MANE Select	ENSP00000290378.4:p.Glu209Asp
ENST00000647798.1:n.721A>T (ACTC1)
ENST00000648556.1:n.784A>T (ACTC1)
ENST00000650163.1:n.707A>T (ACTC1)
ENST00000290378.4:c.627A>T (ACTC1)	ENSP00000290378.4:p.Glu209Asp
ENST00000557860.1:n.317A>T (ACTC1)
ENST00000560563.1:n.126A>T (ACTC1)
NM_005159.4:c.627A>T , LRG_388t1:c.627A>T (ACTC1)	NP_005150.1:p.Glu209Asp
NR_120329.1:n.299+14840T>A (GJD2-DT)
NM_005159.5:c.627A>T (ACTC1) MANE Select	NP_005150.1:p.Glu209Asp