Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA391629328

Gene: ACTC1 HGNC NCBI
GJD2-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2934988

ClinVar RCV Id: RCV003790642

MyVariant Identifiers: chr15:g.35083343G>A (hg19) chr15:g.34791142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791142G>A , CM000677.2:g.34791142G>A	GRCh38
NC_000015.9:g.35083343G>A , CM000677.1:g.35083343G>A	GRCh37
NC_000015.8:g.32870635G>A	NCBI36
NG_007553.1:g.9585C>T , LRG_388:g.9585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1862C>T (ACTC1)
ENST00000290378.6:c.962C>T (ACTC1) MANE Select	ENSP00000290378.4:p.Ala321Val
ENST00000647798.1:n.1056C>T (ACTC1)
ENST00000650163.1:n.1042C>T (ACTC1)
ENST00000290378.4:c.962C>T (ACTC1)	ENSP00000290378.4:p.Ala321Val
NM_005159.4:c.962C>T , LRG_388t1:c.962C>T (ACTC1)	NP_005150.1:p.Ala321Val
NR_120329.1:n.299+13711G>A (GJD2-DT)
NM_005159.5:c.962C>T (ACTC1) MANE Select	NP_005150.1:p.Ala321Val