Canonical Allele Identifier: CA489655820
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085639G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793438G>T , CM000677.2:g.34793438G>T GRCh38
NC_000015.9:g.35085639G>T , CM000677.1:g.35085639G>T GRCh37
NC_000015.8:g.32872931G>T NCBI36
NG_007553.1:g.7289C>A , LRG_388:g.7289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.367C>A (ACTC1)
ENST00000290378.6:c.261C>A (ACTC1) MANE Select ENSP00000290378.4:p.Ile87=
ENST00000647798.1:n.408C>A (ACTC1)
ENST00000648556.1:n.418C>A (ACTC1)
ENST00000650163.1:n.341C>A (ACTC1)
ENST00000290378.4:c.261C>A (ACTC1) ENSP00000290378.4:p.Ile87=
NM_005159.4:c.261C>A , LRG_388t1:c.261C>A (ACTC1) NP_005150.1:p.Ile87=
NR_120329.1:n.299+16007G>T (GJD2-DT)
NM_005159.5:c.261C>A (ACTC1) MANE Select NP_005150.1:p.Ile87=