Canonical Allele Identifier: CA042946
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs751044644
ExAC: 15:35083458 T / C
gnomAD v2: 15-35083458-T-C
gnomAD v4: 15-34791257-T-C
MyVariant Identifiers: chr15:g.35083458T>C (hg19) chr15:g.34791257T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791257T>C , CM000677.2:g.34791257T>C GRCh38
NC_000015.9:g.35083458T>C , CM000677.1:g.35083458T>C GRCh37
NC_000015.8:g.32870750T>C NCBI36
NG_007553.1:g.9470A>G , LRG_388:g.9470A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.1747A>G (ACTC1)
ENST00000290378.6:c.847A>G (ACTC1) MANE Select ENSP00000290378.4:p.Ser283Gly
ENST00000647798.1:n.941A>G (ACTC1)
ENST00000650163.1:n.927A>G (ACTC1)
ENST00000290378.4:c.847A>G (ACTC1) ENSP00000290378.4:p.Ser283Gly
ENST00000557860.1:n.537A>G (ACTC1)
NM_005159.4:c.847A>G , LRG_388t1:c.847A>G (ACTC1) NP_005150.1:p.Ser283Gly
NR_120329.1:n.299+13826T>C (GJD2-DT)
NM_005159.5:c.847A>G (ACTC1) MANE Select NP_005150.1:p.Ser283Gly
Search 100 bp 5'
Search 100 bp 3'