Canonical Allele Identifier: CA391631101
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

COSMIC: COSM5383181
MyVariant Identifiers: chr15:g.35084728G>A (hg19) chr15:g.34792527G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792527G>A , CM000677.2:g.34792527G>A GRCh38
NC_000015.9:g.35084728G>A , CM000677.1:g.35084728G>A GRCh37
NC_000015.8:g.32872020G>A NCBI36
NG_007553.1:g.8200C>T , LRG_388:g.8200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.603C>T (ACTC1)
ENST00000290378.6:c.497C>T (ACTC1) MANE Select ENSP00000290378.4:p.Pro166Leu
ENST00000647798.1:n.591C>T (ACTC1)
ENST00000648556.1:n.654C>T (ACTC1)
ENST00000650163.1:n.577C>T (ACTC1)
ENST00000290378.4:c.497C>T (ACTC1) ENSP00000290378.4:p.Pro166Leu
ENST00000557860.1:n.187C>T (ACTC1)
NM_005159.4:c.497C>T , LRG_388t1:c.497C>T (ACTC1) NP_005150.1:p.Pro166Leu
NR_120329.1:n.299+15096G>A (GJD2-DT)
NM_005159.5:c.497C>T (ACTC1) MANE Select NP_005150.1:p.Pro166Leu
Search 100 bp 5'
Search 100 bp 3'