Canonical Allele Identifier: CA529915242
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1451970566
gnomAD v2: 1-229567687-G-C
MyVariant Identifiers: chr1:g.229567687G>C (hg19) chr1:g.229431940G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431940G>C , CM000663.2:g.229431940G>C GRCh38
NC_000001.10:g.229567687G>C , CM000663.1:g.229567687G>C GRCh37
NC_000001.9:g.227634310G>C NCBI36
NG_006672.1:g.7157C>G , LRG_429:g.7157C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.809-38C>G ENSP00000355644.4:n.809-38C>G
ENST00000684723.1:c.674-38C>G ENSP00000508084.1:n.674-38C>G
ENST00000366683.3:c.480-78C>G ENSP00000355644.3:n.480-78C>G
ENST00000366684.7:c.809-38C>G MANE Select ENSP00000355645.3:n.809-38C>G
NM_001100.3:c.809-38C>G , LRG_429t1:c.809-38C>G NP_001091.1:n.809-38C>G
NM_001100.4:c.809-38C>G MANE Select NP_001091.1:n.809-38C>G
Search 100 bp 5'
Search 100 bp 3'