Canonical Allele Identifier: CA391632197
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

COSMIC: COSM4392984
MyVariant Identifiers: chr15:g.35085746T>G (hg19) chr15:g.34793545T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793545T>G , CM000677.2:g.34793545T>G GRCh38
NC_000015.9:g.35085746T>G , CM000677.1:g.35085746T>G GRCh37
NC_000015.8:g.32873038T>G NCBI36
NG_007553.1:g.7182A>C , LRG_388:g.7182A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.260A>C (ACTC1)
ENST00000290378.6:c.154A>C (ACTC1) MANE Select ENSP00000290378.4:p.Lys52Gln
ENST00000647798.1:n.301A>C (ACTC1)
ENST00000648556.1:n.311A>C (ACTC1)
ENST00000650163.1:n.234A>C (ACTC1)
ENST00000290378.4:c.154A>C (ACTC1) ENSP00000290378.4:p.Lys52Gln
NM_005159.4:c.154A>C , LRG_388t1:c.154A>C (ACTC1) NP_005150.1:p.Lys52Gln
NR_120329.1:n.299+16114T>G (GJD2-DT)
NM_005159.5:c.154A>C (ACTC1) MANE Select NP_005150.1:p.Lys52Gln
Search 100 bp 5'
Search 100 bp 3'