Canonical Allele Identifier: CA391633364
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35086969T>G (hg19) chr15:g.34794768T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794768T>G , CM000677.2:g.34794768T>G GRCh38
NC_000015.9:g.35086969T>G , CM000677.1:g.35086969T>G GRCh37
NC_000015.8:g.32874261T>G NCBI36
NG_007553.1:g.5959A>C , LRG_388:g.5959A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.147A>C (ACTC1)
ENST00000290378.6:c.41A>C (ACTC1) MANE Select ENSP00000290378.4:p.Asn14Thr
ENST00000290378.4:c.41A>C (ACTC1) ENSP00000290378.4:p.Asn14Thr
NM_005159.4:c.41A>C , LRG_388t1:c.41A>C (ACTC1) NP_005150.1:p.Asn14Thr
NR_120329.1:n.300-15728T>G (GJD2-DT)
NM_005159.5:c.41A>C (ACTC1) MANE Select NP_005150.1:p.Asn14Thr
Search 100 bp 5'
Search 100 bp 3'