Canonical Allele Identifier: CA2698260194
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs2102735766
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432232G>T , CM000663.2:g.229432232G>T GRCh38
NC_000001.10:g.229567979G>T , CM000663.1:g.229567979G>T GRCh37
NC_000001.9:g.227634602G>T NCBI36
NG_006672.1:g.6865C>A , LRG_429:g.6865C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.616+38C>A ENSP00000355644.4:n.616+38C>A
ENST00000684723.1:c.481+38C>A ENSP00000508084.1:n.481+38C>A
ENST00000366683.3:c.479+175C>A ENSP00000355644.3:n.479+175C>A
ENST00000366684.7:c.616+38C>A MANE Select ENSP00000355645.3:n.616+38C>A
NM_001100.3:c.616+38C>A , LRG_429t1:c.616+38C>A NP_001091.1:n.616+38C>A
NM_001100.4:c.616+38C>A MANE Select NP_001091.1:n.616+38C>A
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