Canonical Allele Identifier: CA489655530
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1193422305
gnomAD v2: 15-35085750-A-C
MyVariant Identifiers: chr15:g.35085750A>C (hg19) chr15:g.34793549A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793549A>C , CM000677.2:g.34793549A>C GRCh38
NC_000015.9:g.35085750A>C , CM000677.1:g.35085750A>C GRCh37
NC_000015.8:g.32873042A>C NCBI36
NG_007553.1:g.7178T>G , LRG_388:g.7178T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.256T>G (ACTC1)
ENST00000290378.6:c.150T>G (ACTC1) MANE Select ENSP00000290378.4:p.Gly50=
ENST00000647798.1:n.297T>G (ACTC1)
ENST00000648556.1:n.307T>G (ACTC1)
ENST00000650163.1:n.230T>G (ACTC1)
ENST00000290378.4:c.150T>G (ACTC1) ENSP00000290378.4:p.Gly50=
NM_005159.4:c.150T>G , LRG_388t1:c.150T>G (ACTC1) NP_005150.1:p.Gly50=
NR_120329.1:n.299+16118A>C (GJD2-DT)
NM_005159.5:c.150T>G (ACTC1) MANE Select NP_005150.1:p.Gly50=
Search 100 bp 5'
Search 100 bp 3'