Canonical Allele Identifier: CA489655746
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085579G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793378G>T , CM000677.2:g.34793378G>T GRCh38
NC_000015.9:g.35085579G>T , CM000677.1:g.35085579G>T GRCh37
NC_000015.8:g.32872871G>T NCBI36
NG_007553.1:g.7349C>A , LRG_388:g.7349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.427C>A (ACTC1)
ENST00000290378.6:c.321C>A (ACTC1) MANE Select ENSP00000290378.4:p.Leu107=
ENST00000647798.1:n.468C>A (ACTC1)
ENST00000648556.1:n.478C>A (ACTC1)
ENST00000650163.1:n.401C>A (ACTC1)
ENST00000290378.4:c.321C>A (ACTC1) ENSP00000290378.4:p.Leu107=
NM_005159.4:c.321C>A , LRG_388t1:c.321C>A (ACTC1) NP_005150.1:p.Leu107=
NR_120329.1:n.299+15947G>T (GJD2-DT)
NM_005159.5:c.321C>A (ACTC1) MANE Select NP_005150.1:p.Leu107=
Search 100 bp 5'
Search 100 bp 3'