Canonical Allele Identifier: CA019962
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 45191
ClinVar RCV Id: RCV000038341 RCV000808186 RCV000853444
dbSNP Id: rs397517073
gnomAD v4: 15-34791254-T-A
MyVariant Identifiers: chr15:g.35083455T>A (hg19) chr15:g.34791254T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791254T>A , CM000677.2:g.34791254T>A GRCh38
NC_000015.9:g.35083455T>A , CM000677.1:g.35083455T>A GRCh37
NC_000015.8:g.32870747T>A NCBI36
NG_007553.1:g.9473A>T , LRG_388:g.9473A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1750A>T (ACTC1)
ENST00000290378.6:c.850A>T (ACTC1) MANE Select ENSP00000290378.4:p.Ile284Phe
ENST00000647798.1:n.944A>T (ACTC1)
ENST00000650163.1:n.930A>T (ACTC1)
ENST00000290378.4:c.850A>T (ACTC1) ENSP00000290378.4:p.Ile284Phe
ENST00000557860.1:n.540A>T (ACTC1)
NM_005159.4:c.850A>T , LRG_388t1:c.850A>T (ACTC1) NP_005150.1:p.Ile284Phe
NR_120329.1:n.299+13823T>A (GJD2-DT)
NM_005159.5:c.850A>T (ACTC1) MANE Select NP_005150.1:p.Ile284Phe
Search 100 bp 5'
Search 100 bp 3'