Canonical Allele Identifier: CA366702827
Gene: ACTB HGNC NCBI

Linked Data

dbSNP Id: rs1784813618
gnomAD v3: 7-5528521-A-T
gnomAD v4: 7-5528521-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528521A>T , CM000669.2:g.5528521A>T GRCh38
NC_000007.13:g.5568152A>T , CM000669.1:g.5568152A>T GRCh37
NC_000007.12:g.5534678A>T NCBI36
NG_007992.1:g.7081T>A , LRG_132:g.7081T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432588.6:c.562T>A ENSP00000407473.2:p.Tyr188Asn
ENST00000473257.3:c.433T>A ENSP00000501773.1:p.Tyr145Asn
ENST00000477812.2:n.1109T>A
ENST00000493945.6:c.562T>A ENSP00000494269.1:p.Tyr188Asn
ENST00000642480.2:c.562T>A ENSP00000495995.2:p.Tyr188Asn
ENST00000645576.1:c.514T>A ENSP00000496101.1:p.Tyr172Asn
ENST00000646664.1:c.562T>A MANE Select ENSP00000494750.1:p.Tyr188Asn
ENST00000647275.1:c.196T>A ENSP00000494185.1:p.Tyr66Asn
ENST00000674681.1:c.562T>A ENSP00000502821.1:p.Tyr188Asn
ENST00000675515.1:c.562T>A ENSP00000501862.1:p.Tyr188Asn
ENST00000676189.1:c.*105T>A ENSP00000502538.1:n.*105T>A
ENST00000676319.1:c.88-738T>A ENSP00000502193.1:n.88-738T>A
ENST00000676397.1:c.562T>A ENSP00000502286.1:p.Tyr188Asn
ENST00000331789.9:c.562T>A ENSP00000349960.4:p.Tyr188Asn
ENST00000425660.5:c.*225T>A ENSP00000409264.1:n.*225T>A
ENST00000462494.5:n.1087T>A
ENST00000473257.1:n.280T>A
ENST00000477812.1:n.769T>A
ENST00000484841.5:n.717T>A
ENST00000493945.5:n.568T>A
NM_001101.3:c.562T>A , LRG_132t1:c.562T>A NP_001092.1:p.Tyr188Asn
XM_006715764.1:c.196T>A XP_006715827.1:p.Tyr66Asn
NM_001101.4:c.562T>A NP_001092.1:p.Tyr188Asn
NM_001101.5:c.562T>A MANE Select NP_001092.1:p.Tyr188Asn