Canonical Allele Identifier: CA391631546
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085604G>T (hg19) chr15:g.34793403G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793403G>T , CM000677.2:g.34793403G>T GRCh38
NC_000015.9:g.35085604G>T , CM000677.1:g.35085604G>T GRCh37
NC_000015.8:g.32872896G>T NCBI36
NG_007553.1:g.7324C>A , LRG_388:g.7324C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.402C>A (ACTC1)
ENST00000290378.6:c.296C>A (ACTC1) MANE Select ENSP00000290378.4:p.Ala99Asp
ENST00000647798.1:n.443C>A (ACTC1)
ENST00000648556.1:n.453C>A (ACTC1)
ENST00000650163.1:n.376C>A (ACTC1)
ENST00000290378.4:c.296C>A (ACTC1) ENSP00000290378.4:p.Ala99Asp
NM_005159.4:c.296C>A , LRG_388t1:c.296C>A (ACTC1) NP_005150.1:p.Ala99Asp
NR_120329.1:n.299+15972G>T (GJD2-DT)
NM_005159.5:c.296C>A (ACTC1) MANE Select NP_005150.1:p.Ala99Asp
Search 100 bp 5'
Search 100 bp 3'