Canonical Allele Identifier: CA9417183
Community Standard Title: NM_004924.6(ACTN4):c.162+12G>A
Gene: ACTN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38647919G>A , CM000681.2:g.38647919G>A GRCh38
NC_000019.9:g.39138559G>A , CM000681.1:g.39138559G>A GRCh37
NC_000019.8:g.43830399G>A NCBI36
NG_007082.2:g.5233G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004924.6:c.162+12G>A MANE Select NP_004915.2:n.162+12G>A
ENST00000252699.7:c.162+12G>A MANE Select ENSP00000252699.2:n.162+12G>A
NM_001322033.1:c.162+12G>A NP_001308962.1:n.162+12G>A
NM_001322033.2:c.162+12G>A NP_001308962.1:n.162+12G>A
NM_004924.4:c.162+12G>A NP_004915.2:n.162+12G>A
NM_004924.5:c.162+12G>A NP_004915.2:n.162+12G>A
ENST00000252699.6:c.162+12G>A ENSP00000252699.2:n.162+12G>A
ENST00000390009.7:c.162+12G>A ENSP00000439497.1:n.162+12G>A
ENST00000424234.6:c.162+12G>A ENSP00000411187.3:n.162+12G>A
ENST00000424234.7:c.162+12G>A ENSP00000411187.4:n.162+12G>A
ENST00000440400.2:c.162+12G>A ENSP00000398393.2:n.162+12G>A
ENST00000440400.3:c.162+12G>A ENSP00000398393.2:n.162+12G>A
ENST00000588618.5:n.259+12G>A
ENST00000589528.1:c.170+12G>A
XM_005259281.3:c.162+12G>A XP_005259338.1:n.162+12G>A
XM_005259281.5:c.162+12G>A XP_005259338.1:n.162+12G>A
XM_005259282.3:c.162+12G>A XP_005259339.1:n.162+12G>A
XM_006723406.1:c.162+12G>A XP_006723469.1:n.162+12G>A
XM_006723406.3:c.162+12G>A XP_006723469.1:n.162+12G>A
XM_017027331.2:c.162+12G>A XP_016882820.1:n.162+12G>A