Canonical Allele Identifier: CA2169207362

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891716061

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792042A>G , CM000677.2:g.34792042A>G	GRCh38
NC_000015.9:g.35084243A>G , CM000677.1:g.35084243A>G	GRCh37
NC_000015.8:g.32871535A>G	NCBI36
NG_007553.1:g.8685T>C , LRG_388:g.8685T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.962T>C (ACTC1)
ENST00000290378.6:c.808+48T>C (ACTC1) MANE Select	ENSP00000290378.4:n.808+48T>C
ENST00000647798.1:n.902+48T>C (ACTC1)
ENST00000650163.1:n.888+48T>C (ACTC1)
ENST00000290378.4:c.808+48T>C (ACTC1)	ENSP00000290378.4:n.808+48T>C
ENST00000557860.1:n.498+48T>C (ACTC1)
ENST00000560563.1:n.355T>C (ACTC1)
NM_005159.4:c.808+48T>C , LRG_388t1:c.808+48T>C (ACTC1)	NP_005150.1:n.808+48T>C
NR_120329.1:n.299+14611A>G (GJD2-DT)
NM_005159.5:c.808+48T>C (ACTC1) MANE Select	NP_005150.1:n.808+48T>C