Canonical Allele Identifier: CA268664378
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs892879905
gnomAD v2: 15-35086627-T-C
gnomAD v3: 15-34794426-T-C
gnomAD v4: 15-34794426-T-C
MyVariant Identifiers: chr15:g.35086627T>C (hg19) chr15:g.34794426T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794426T>C , CM000677.2:g.34794426T>C GRCh38
NC_000015.9:g.35086627T>C , CM000677.1:g.35086627T>C GRCh37
NC_000015.8:g.32873919T>C NCBI36
NG_007553.1:g.6301A>G , LRG_388:g.6301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.235+254A>G (ACTC1)
ENST00000290378.6:c.129+254A>G (ACTC1) MANE Select ENSP00000290378.4:n.129+254A>G
ENST00000290378.4:c.129+254A>G (ACTC1) ENSP00000290378.4:n.129+254A>G
NM_005159.4:c.129+254A>G , LRG_388t1:c.129+254A>G (ACTC1) NP_005150.1:n.129+254A>G
NR_120329.1:n.300-16070T>C (GJD2-DT)
NM_005159.5:c.129+254A>G (ACTC1) MANE Select NP_005150.1:n.129+254A>G
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Search 100 bp 3'