Canonical Allele Identifier: CA268660355
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs756956924
gnomAD v2: 15-35082822-T-C
gnomAD v3: 15-34790621-T-C
gnomAD v4: 15-34790621-T-C
MyVariant Identifiers: chr15:g.35082822T>C (hg19) chr15:g.34790621T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34790621T>C , CM000677.2:g.34790621T>C GRCh38
NC_000015.9:g.35082822T>C , CM000677.1:g.35082822T>C GRCh37
NC_000015.8:g.32870114T>C NCBI36
NG_007553.1:g.10106A>G , LRG_388:g.10106A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1891-66A>G (ACTC1)
ENST00000290378.6:c.991-66A>G (ACTC1) MANE Select ENSP00000290378.4:n.991-66A>G
ENST00000647798.1:n.1085-66A>G (ACTC1)
ENST00000650163.1:n.1071-66A>G (ACTC1)
ENST00000290378.4:c.991-66A>G (ACTC1) ENSP00000290378.4:n.991-66A>G
NM_005159.4:c.991-66A>G , LRG_388t1:c.991-66A>G (ACTC1) NP_005150.1:n.991-66A>G
NR_120329.1:n.299+13190T>C (GJD2-DT)
NM_005159.5:c.991-66A>G (ACTC1) MANE Select NP_005150.1:n.991-66A>G
Search 100 bp 5'
Search 100 bp 3'