Canonical Allele Identifier: CA617197294
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1403755638

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792039C>T , CM000677.2:g.34792039C>T GRCh38
NC_000015.9:g.35084240C>T , CM000677.1:g.35084240C>T GRCh37
NC_000015.8:g.32871532C>T NCBI36
NG_007553.1:g.8688G>A , LRG_388:g.8688G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.965G>A (ACTC1)
ENST00000290378.6:c.808+51G>A (ACTC1) MANE Select ENSP00000290378.4:n.808+51G>A
ENST00000647798.1:n.902+51G>A (ACTC1)
ENST00000650163.1:n.888+51G>A (ACTC1)
ENST00000290378.4:c.808+51G>A (ACTC1) ENSP00000290378.4:n.808+51G>A
ENST00000557860.1:n.498+51G>A (ACTC1)
ENST00000560563.1:n.358G>A (ACTC1)
NM_005159.4:c.808+51G>A , LRG_388t1:c.808+51G>A (ACTC1) NP_005150.1:n.808+51G>A
NR_120329.1:n.299+14608C>T (GJD2-DT)
NM_005159.5:c.808+51G>A (ACTC1) MANE Select NP_005150.1:n.808+51G>A