Canonical Allele Identifier: CA968569929
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1891715723

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792029T>C , CM000677.2:g.34792029T>C GRCh38
NC_000015.9:g.35084230T>C , CM000677.1:g.35084230T>C GRCh37
NC_000015.8:g.32871522T>C NCBI36
NG_007553.1:g.8698A>G , LRG_388:g.8698A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.975A>G (ACTC1)
ENST00000290378.6:c.808+61A>G (ACTC1) MANE Select ENSP00000290378.4:n.808+61A>G
ENST00000647798.1:n.902+61A>G (ACTC1)
ENST00000650163.1:n.888+61A>G (ACTC1)
ENST00000290378.4:c.808+61A>G (ACTC1) ENSP00000290378.4:n.808+61A>G
ENST00000557860.1:n.498+61A>G (ACTC1)
ENST00000560563.1:n.368A>G (ACTC1)
NM_005159.4:c.808+61A>G , LRG_388t1:c.808+61A>G (ACTC1) NP_005150.1:n.808+61A>G
NR_120329.1:n.299+14598T>C (GJD2-DT)
NM_005159.5:c.808+61A>G (ACTC1) MANE Select NP_005150.1:n.808+61A>G