Canonical Allele Identifier: CA405693333
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38708162A>T , CM000681.2:g.38708162A>T GRCh38
NC_000019.9:g.39198802A>T , CM000681.1:g.39198802A>T GRCh37
NC_000019.8:g.43890642A>T NCBI36
NG_007082.2:g.65476A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440400.3:c.618A>T ENSP00000398393.2:p.Arg206Ser
ENST00000697712.1:c.477A>T ENSP00000513410.1:p.Arg159Ser
ENST00000252699.7:c.618A>T MANE Select ENSP00000252699.2:p.Arg206Ser
ENST00000424234.7:c.618A>T ENSP00000411187.4:p.Arg206Ser
ENST00000440400.2:c.618A>T ENSP00000398393.2:p.Arg206Ser
ENST00000252699.6:c.618A>T ENSP00000252699.2:p.Arg206Ser
ENST00000390009.7:c.163-6307A>T ENSP00000439497.1:n.163-6307A>T
ENST00000424234.6:c.272+7453A>T ENSP00000411187.3:n.272+7453A>T
ENST00000495553.1:n.524A>T
ENST00000586538.1:c.21A>T ENSP00000465176.1:p.Arg7Ser
ENST00000588618.5:n.715A>T
ENST00000589528.1:c.285+7448A>T
NM_004924.4:c.618A>T NP_004915.2:p.Arg206Ser
XM_005259281.3:c.618A>T XP_005259338.1:p.Arg206Ser
XM_005259282.3:c.618A>T XP_005259339.1:p.Arg206Ser
XM_006723406.1:c.618A>T XP_006723469.1:p.Arg206Ser
NM_001322033.1:c.618A>T NP_001308962.1:p.Arg206Ser
NM_004924.5:c.618A>T NP_004915.2:p.Arg206Ser
XM_005259281.5:c.618A>T XP_005259338.1:p.Arg206Ser
XM_006723406.3:c.618A>T XP_006723469.1:p.Arg206Ser
XM_017027331.2:c.618A>T XP_016882820.1:p.Arg206Ser
XR_001753937.1:n.123-5998T>A
NM_004924.6:c.618A>T MANE Select NP_004915.2:p.Arg206Ser
NM_001322033.2:c.618A>T NP_001308962.1:p.Arg206Ser