Canonical Allele Identifier: CA391631475
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.35085569G>A (hg19) chr15:g.34793368G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793368G>A , CM000677.2:g.34793368G>A GRCh38
NC_000015.9:g.35085569G>A , CM000677.1:g.35085569G>A GRCh37
NC_000015.8:g.32872861G>A NCBI36
NG_007553.1:g.7359C>T , LRG_388:g.7359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.437C>T (ACTC1)
ENST00000290378.6:c.331C>T (ACTC1) MANE Select ENSP00000290378.4:p.Pro111Ser
ENST00000647798.1:n.478C>T (ACTC1)
ENST00000648556.1:n.488C>T (ACTC1)
ENST00000650163.1:n.411C>T (ACTC1)
ENST00000290378.4:c.331C>T (ACTC1) ENSP00000290378.4:p.Pro111Ser
NM_005159.4:c.331C>T , LRG_388t1:c.331C>T (ACTC1) NP_005150.1:p.Pro111Ser
NR_120329.1:n.299+15937G>A (GJD2-DT)
NM_005159.5:c.331C>T (ACTC1) MANE Select NP_005150.1:p.Pro111Ser
Search 100 bp 5'
Search 100 bp 3'