Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

ClinGen Allele Registry

Canonical Allele Identifier: CA489655756

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2148458

ClinVar RCV Id: RCV003063407

dbSNP Id: rs1595761376

MyVariant Identifiers: chr15:g.35085588G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793387G>C , CM000677.2:g.34793387G>C	GRCh38
NC_000015.9:g.35085588G>C , CM000677.1:g.35085588G>C	GRCh37
NC_000015.8:g.32872880G>C	NCBI36
NG_007553.1:g.7340C>G , LRG_388:g.7340C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.418C>G (ACTC1)
ENST00000290378.6:c.312C>G (ACTC1) MANE Select	ENSP00000290378.4:p.Pro104=
ENST00000647798.1:n.459C>G (ACTC1)
ENST00000648556.1:n.469C>G (ACTC1)
ENST00000650163.1:n.392C>G (ACTC1)
ENST00000290378.4:c.312C>G (ACTC1)	ENSP00000290378.4:p.Pro104=
NM_005159.4:c.312C>G , LRG_388t1:c.312C>G (ACTC1)	NP_005150.1:p.Pro104=
NR_120329.1:n.299+15956G>C (GJD2-DT)
NM_005159.5:c.312C>G (ACTC1) MANE Select	NP_005150.1:p.Pro104=