Canonical Allele Identifier: CA712281790
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1368626990
gnomAD v3: 15-34794581-A-G
gnomAD v4: 15-34794581-A-G
MyVariant Identifiers: chr15:g.35086782A>G (hg19) chr15:g.34794581A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794581A>G , CM000677.2:g.34794581A>G GRCh38
NC_000015.9:g.35086782A>G , CM000677.1:g.35086782A>G GRCh37
NC_000015.8:g.32874074A>G NCBI36
NG_007553.1:g.6146T>C , LRG_388:g.6146T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560563.2:n.235+99T>C (ACTC1)
ENST00000290378.6:c.129+99T>C (ACTC1) MANE Select ENSP00000290378.4:n.129+99T>C
ENST00000290378.4:c.129+99T>C (ACTC1) ENSP00000290378.4:n.129+99T>C
NM_005159.4:c.129+99T>C , LRG_388t1:c.129+99T>C (ACTC1) NP_005150.1:n.129+99T>C
NR_120329.1:n.300-15915A>G (GJD2-DT)
NM_005159.5:c.129+99T>C (ACTC1) MANE Select NP_005150.1:n.129+99T>C
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