Canonical Allele Identifier: CA391633112
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

dbSNP Id: rs1451590510
gnomAD v2: 15-35086910-G-A
MyVariant Identifiers: chr15:g.35086910G>A (hg19) chr15:g.34794709G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34794709G>A , CM000677.2:g.34794709G>A GRCh38
NC_000015.9:g.35086910G>A , CM000677.1:g.35086910G>A GRCh37
NC_000015.8:g.32874202G>A NCBI36
NG_007553.1:g.6018C>T , LRG_388:g.6018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.206C>T (ACTC1)
ENST00000290378.6:c.100C>T (ACTC1) MANE Select ENSP00000290378.4:p.Pro34Ser
ENST00000290378.4:c.100C>T (ACTC1) ENSP00000290378.4:p.Pro34Ser
NM_005159.4:c.100C>T , LRG_388t1:c.100C>T (ACTC1) NP_005150.1:p.Pro34Ser
NR_120329.1:n.300-15787G>A (GJD2-DT)
NM_005159.5:c.100C>T (ACTC1) MANE Select NP_005150.1:p.Pro34Ser
Search 100 bp 5'
Search 100 bp 3'