Canonical Allele Identifier: CA391629662
Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 835562
ClinVar RCV Id: RCV001036470
dbSNP Id: rs1891698673

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791291C>T , CM000677.2:g.34791291C>T GRCh38
NC_000015.9:g.35083492C>T , CM000677.1:g.35083492C>T GRCh37
NC_000015.8:g.32870784C>T NCBI36
NG_007553.1:g.9436G>A , LRG_388:g.9436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560563.2:n.1713G>A (ACTC1)
ENST00000290378.6:c.813G>A (ACTC1) MANE Select ENSP00000290378.4:p.Met271Ile
ENST00000647798.1:n.907G>A (ACTC1)
ENST00000650163.1:n.893G>A (ACTC1)
ENST00000290378.4:c.813G>A (ACTC1) ENSP00000290378.4:p.Met271Ile
ENST00000557860.1:n.503G>A (ACTC1)
NM_005159.4:c.813G>A , LRG_388t1:c.813G>A (ACTC1) NP_005150.1:p.Met271Ile
NR_120329.1:n.299+13860C>T (GJD2-DT)
NM_005159.5:c.813G>A (ACTC1) MANE Select NP_005150.1:p.Met271Ile