Canonical Allele Identifier: CA2627662952

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792634-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792634G>A , CM000677.2:g.34792634G>A	GRCh38
NC_000015.9:g.35084835G>A , CM000677.1:g.35084835G>A	GRCh37
NC_000015.8:g.32872127G>A	NCBI36
NG_007553.1:g.8093C>T , LRG_388:g.8093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.561-65C>T (ACTC1)
ENST00000290378.6:c.455-65C>T (ACTC1) MANE Select	ENSP00000290378.4:n.455-65C>T
ENST00000647798.1:n.549-65C>T (ACTC1)
ENST00000648556.1:n.612-65C>T (ACTC1)
ENST00000650163.1:n.535-65C>T (ACTC1)
ENST00000290378.4:c.455-65C>T (ACTC1)	ENSP00000290378.4:n.455-65C>T
ENST00000557860.1:n.145-65C>T (ACTC1)
NM_005159.4:c.455-65C>T , LRG_388t1:c.455-65C>T (ACTC1)	NP_005150.1:n.455-65C>T
NR_120329.1:n.299+15203G>A (GJD2-DT)
NM_005159.5:c.455-65C>T (ACTC1) MANE Select	NP_005150.1:n.455-65C>T