Canonical Allele Identifier: CA345144111
Gene: ACTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.229567259C>T (hg19) chr1:g.229431512C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431512C>T , CM000663.2:g.229431512C>T GRCh38
NC_000001.10:g.229567259C>T , CM000663.1:g.229567259C>T GRCh37
NC_000001.9:g.227633882C>T NCBI36
NG_006672.1:g.7585G>A , LRG_429:g.7585G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1043G>A ENSP00000355644.4:p.Arg348His
ENST00000684723.1:c.986G>A ENSP00000508084.1:p.Arg329His
ENST00000366683.3:c.752G>A ENSP00000355644.3:p.Arg251His
ENST00000366684.7:c.1121G>A MANE Select ENSP00000355645.3:p.Arg374His
NM_001100.3:c.1121G>A , LRG_429t1:c.1121G>A NP_001091.1:p.Arg374His
NM_001100.4:c.1121G>A MANE Select NP_001091.1:p.Arg374His
Search 100 bp 5'
Search 100 bp 3'