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: CA345146645

Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734105

ClinVar RCV Id: RCV003518739

MyVariant Identifiers: chr1:g.229567791C>T (hg19) chr1:g.229432044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432044C>T , CM000663.2:g.229432044C>T	GRCh38
NC_000001.10:g.229567791C>T , CM000663.1:g.229567791C>T	GRCh37
NC_000001.9:g.227634414C>T	NCBI36
NG_006672.1:g.7053G>A , LRG_429:g.7053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.758G>A	ENSP00000355644.4:p.Gly253Asp
ENST00000684723.1:c.623G>A	ENSP00000508084.1:p.Gly208Asp
ENST00000366683.3:c.480-182G>A	ENSP00000355644.3:n.480-182G>A
ENST00000366684.7:c.758G>A MANE Select	ENSP00000355645.3:p.Gly253Asp
NM_001100.3:c.758G>A , LRG_429t1:c.758G>A	NP_001091.1:p.Gly253Asp
NM_001100.4:c.758G>A MANE Select	NP_001091.1:p.Gly253Asp