Canonical Allele Identifier: CA2681649917
Gene: ACTB HGNC NCBI

Linked Data

gnomAD v4: 7-5529051-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5529051A>C , CM000669.2:g.5529051A>C GRCh38
NC_000007.13:g.5568682A>C , CM000669.1:g.5568682A>C GRCh37
NC_000007.12:g.5535208A>C NCBI36
NG_007992.1:g.6551T>G , LRG_132:g.6551T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432588.6:c.363+110T>G ENSP00000407473.2:n.363+110T>G
ENST00000473257.3:c.234+110T>G ENSP00000501773.1:n.234+110T>G
ENST00000477812.2:n.579T>G
ENST00000484841.6:n.526T>G
ENST00000493945.6:c.363+110T>G ENSP00000494269.1:n.363+110T>G
ENST00000642480.2:c.363+110T>G ENSP00000495995.2:n.363+110T>G
ENST00000645025.1:n.455T>G
ENST00000645576.1:c.363+110T>G ENSP00000496101.1:n.363+110T>G
ENST00000646664.1:c.363+110T>G MANE Select ENSP00000494750.1:n.363+110T>G
ENST00000647275.1:c.-3-332T>G ENSP00000494185.1:n.-3-332T>G
ENST00000674681.1:c.363+110T>G ENSP00000502821.1:n.363+110T>G
ENST00000675515.1:c.363+110T>G ENSP00000501862.1:n.363+110T>G
ENST00000676189.1:c.374+99T>G ENSP00000502538.1:n.374+99T>G
ENST00000676319.1:c.87+520T>G ENSP00000502193.1:n.87+520T>G
ENST00000676397.1:c.363+110T>G ENSP00000502286.1:n.363+110T>G
ENST00000331789.9:c.363+110T>G ENSP00000349960.4:n.363+110T>G
ENST00000425660.5:c.372T>G ENSP00000409264.1:p.Leu124=
ENST00000432588.5:c.363+110T>G ENSP00000407473.1:n.363+110T>G
ENST00000462494.5:n.557T>G
ENST00000473257.1:n.82-332T>G
ENST00000477812.1:n.570+110T>G
ENST00000484841.5:n.518+110T>G
ENST00000493945.5:n.369+110T>G
NM_001101.3:c.363+110T>G , LRG_132t1:c.363+110T>G NP_001092.1:n.363+110T>G
XM_006715764.1:c.-335T>G XP_006715827.1:n.-335T>G
NM_001101.4:c.363+110T>G NP_001092.1:n.363+110T>G
NM_001101.5:c.363+110T>G MANE Select NP_001092.1:n.363+110T>G