Canonical Allele Identifier: CA2169204727

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891687683

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790771G>C , CM000677.2:g.34790771G>C	GRCh38
NC_000015.9:g.35082972G>C , CM000677.1:g.35082972G>C	GRCh37
NC_000015.8:g.32870264G>C	NCBI36
NG_007553.1:g.9956C>G , LRG_388:g.9956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-216C>G (ACTC1)
ENST00000290378.6:c.991-216C>G (ACTC1) MANE Select	ENSP00000290378.4:n.991-216C>G
ENST00000647798.1:n.1085-216C>G (ACTC1)
ENST00000650163.1:n.1071-216C>G (ACTC1)
ENST00000290378.4:c.991-216C>G (ACTC1)	ENSP00000290378.4:n.991-216C>G
NM_005159.4:c.991-216C>G , LRG_388t1:c.991-216C>G (ACTC1)	NP_005150.1:n.991-216C>G
NR_120329.1:n.299+13340G>C (GJD2-DT)
NM_005159.5:c.991-216C>G (ACTC1) MANE Select	NP_005150.1:n.991-216C>G