Canonical Allele Identifier: CA391630961
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35084662G>C (hg19) chr15:g.34792461G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792461G>C , CM000677.2:g.34792461G>C GRCh38
NC_000015.9:g.35084662G>C , CM000677.1:g.35084662G>C GRCh37
NC_000015.8:g.32871954G>C NCBI36
NG_007553.1:g.8266C>G , LRG_388:g.8266C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.669C>G (ACTC1)
ENST00000290378.6:c.563C>G (ACTC1) MANE Select ENSP00000290378.4:p.Thr188Ser
ENST00000647798.1:n.657C>G (ACTC1)
ENST00000648556.1:n.720C>G (ACTC1)
ENST00000650163.1:n.643C>G (ACTC1)
ENST00000290378.4:c.563C>G (ACTC1) ENSP00000290378.4:p.Thr188Ser
ENST00000557860.1:n.253C>G (ACTC1)
ENST00000560563.1:n.62C>G (ACTC1)
NM_005159.4:c.563C>G , LRG_388t1:c.563C>G (ACTC1) NP_005150.1:p.Thr188Ser
NR_120329.1:n.299+15030G>C (GJD2-DT)
NM_005159.5:c.563C>G (ACTC1) MANE Select NP_005150.1:p.Thr188Ser
Search 100 bp 5'
Search 100 bp 3'