Canonical Allele Identifier: CA391632082
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 538805
ClinVar RCV Id: RCV000648296 RCV000769473 RCV004004090
dbSNP Id: rs1555418912
MyVariant Identifiers: chr15:g.35085722C>T (hg19) chr15:g.34793521C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793521C>T , CM000677.2:g.34793521C>T GRCh38
NC_000015.9:g.35085722C>T , CM000677.1:g.35085722C>T GRCh37
NC_000015.8:g.32873014C>T NCBI36
NG_007553.1:g.7206G>A , LRG_388:g.7206G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.284G>A (ACTC1)
ENST00000290378.6:c.178G>A (ACTC1) MANE Select ENSP00000290378.4:p.Ala60Thr
ENST00000647798.1:n.325G>A (ACTC1)
ENST00000648556.1:n.335G>A (ACTC1)
ENST00000650163.1:n.258G>A (ACTC1)
ENST00000290378.4:c.178G>A (ACTC1) ENSP00000290378.4:p.Ala60Thr
NM_005159.4:c.178G>A , LRG_388t1:c.178G>A (ACTC1) NP_005150.1:p.Ala60Thr
NR_120329.1:n.299+16090C>T (GJD2-DT)
NM_005159.5:c.178G>A (ACTC1) MANE Select NP_005150.1:p.Ala60Thr
Search 100 bp 5'
Search 100 bp 3'