Canonical Allele Identifier: CA38816563
Gene: ACTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.229432787G>T
GRCh37 chr1:g.229568534G>T
Revel Score:
ENST00000366684 (MANE Select) 0.826
ENST00000308794 0.826
ENST00000366683 0.826
ENST00000366682 0.826
ENST00000342787 0.826
ClinVar Allele:
2414518
ClinVar RCV:
RCV003139588
ClinVar Variation:
2438836
dbSNP:
267606627
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432787G>T , CM000663.2:g.229432787G>T GRCh38
NC_000001.10:g.229568534G>T , CM000663.1:g.229568534G>T GRCh37
NC_000001.9:g.227635157G>T NCBI36
NG_006672.1:g.6310C>A , LRG_429:g.6310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.223C>A ENSP00000355644.4:p.His75Asn
ENST00000684723.1:c.88C>A ENSP00000508084.1:p.His30Asn
ENST00000366683.3:c.223C>A ENSP00000355644.3:p.His75Asn
ENST00000366684.7:c.223C>A MANE Select ENSP00000355645.3:p.His75Asn
NM_001100.3:c.223C>A , LRG_429t1:c.223C>A NP_001091.1:p.His75Asn
NM_001100.4:c.223C>A MANE Select NP_001091.1:p.His75Asn
Search 100 bp 5'
Search 100 bp 3'