Canonical Allele Identifier: CA041099
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2057989
ClinVar RCV Id: RCV002928354
dbSNP Id: rs774244503
ExAC: 15:35085768 T / G
gnomAD v2: 15-35085768-T-G
gnomAD v4: 15-34793567-T-G
MyVariant Identifiers: chr15:g.35085768T>G (hg19) chr15:g.34793567T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793567T>G , CM000677.2:g.34793567T>G GRCh38
NC_000015.9:g.35085768T>G , CM000677.1:g.35085768T>G GRCh37
NC_000015.8:g.32873060T>G NCBI36
NG_007553.1:g.7160A>C , LRG_388:g.7160A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.238A>C (ACTC1)
ENST00000290378.6:c.132A>C (ACTC1) MANE Select ENSP00000290378.4:p.Gly44=
ENST00000647798.1:n.279A>C (ACTC1)
ENST00000648556.1:n.289A>C (ACTC1)
ENST00000650163.1:n.212A>C (ACTC1)
ENST00000290378.4:c.132A>C (ACTC1) ENSP00000290378.4:p.Gly44=
NM_005159.4:c.132A>C , LRG_388t1:c.132A>C (ACTC1) NP_005150.1:p.Gly44=
NR_120329.1:n.299+16136T>G (GJD2-DT)
NM_005159.5:c.132A>C (ACTC1) MANE Select NP_005150.1:p.Gly44=
Search 100 bp 5'
Search 100 bp 3'