Canonical Allele Identifier: CA391632236
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085754A>G (hg19) chr15:g.34793553A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793553A>G , CM000677.2:g.34793553A>G GRCh38
NC_000015.9:g.35085754A>G , CM000677.1:g.35085754A>G GRCh37
NC_000015.8:g.32873046A>G NCBI36
NG_007553.1:g.7174T>C , LRG_388:g.7174T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.252T>C (ACTC1)
ENST00000290378.6:c.146T>C (ACTC1) MANE Select ENSP00000290378.4:p.Met49Thr
ENST00000647798.1:n.293T>C (ACTC1)
ENST00000648556.1:n.303T>C (ACTC1)
ENST00000650163.1:n.226T>C (ACTC1)
ENST00000290378.4:c.146T>C (ACTC1) ENSP00000290378.4:p.Met49Thr
NM_005159.4:c.146T>C , LRG_388t1:c.146T>C (ACTC1) NP_005150.1:p.Met49Thr
NR_120329.1:n.299+16122A>G (GJD2-DT)
NM_005159.5:c.146T>C (ACTC1) MANE Select NP_005150.1:p.Met49Thr
Search 100 bp 5'
Search 100 bp 3'