Canonical Allele Identifier: CA405707399
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38729425A>C , CM000681.2:g.38729425A>C GRCh38
NC_000019.9:g.39220065A>C , CM000681.1:g.39220065A>C GRCh37
NC_000019.8:g.43911905A>C NCBI36
NG_007082.2:g.86739A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000440400.3:c.2714A>C ENSP00000398393.2:p.Asp905Ala
ENST00000697712.1:c.2588A>C ENSP00000513410.1:p.Asp863Ala
ENST00000252699.7:c.2729A>C MANE Select ENSP00000252699.2:p.Asp910Ala
ENST00000424234.7:c.2729A>C ENSP00000411187.4:p.Asp910Ala
ENST00000440400.2:c.2714A>C ENSP00000398393.2:p.Asp905Ala
ENST00000252699.6:c.2729A>C ENSP00000252699.2:p.Asp910Ala
ENST00000390009.7:c.2072A>C ENSP00000439497.1:p.Asp691Ala
ENST00000424234.6:c.1559A>C ENSP00000411187.3:p.Asp520Ala
ENST00000440400.1:c.1022A>C ENSP00000398393.1:p.Asp341Ala
ENST00000497637.5:n.482A>C
ENST00000589528.1:c.286-564A>C
NM_004924.4:c.2729A>C NP_004915.2:p.Asp910Ala
XM_005259281.3:c.2714A>C XP_005259338.1:p.Asp905Ala
XM_005259282.3:c.2714A>C XP_005259339.1:p.Asp905Ala
XM_006723406.1:c.2729A>C XP_006723469.1:p.Asp910Ala
NM_001322033.1:c.2714A>C NP_001308962.1:p.Asp905Ala
NM_004924.5:c.2729A>C NP_004915.2:p.Asp910Ala
XM_005259281.5:c.2714A>C XP_005259338.1:p.Asp905Ala
XM_006723406.3:c.2729A>C XP_006723469.1:p.Asp910Ala
XM_017027331.2:c.2795A>C XP_016882820.1:p.Asp932Ala
NM_004924.6:c.2729A>C MANE Select NP_004915.2:p.Asp910Ala
NM_001322033.2:c.2714A>C NP_001308962.1:p.Asp905Ala