Canonical Allele Identifier: CA405693526
Gene: ACTN4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38708179A>C , CM000681.2:g.38708179A>C GRCh38
NC_000019.9:g.39198819A>C , CM000681.1:g.39198819A>C GRCh37
NC_000019.8:g.43890659A>C NCBI36
NG_007082.2:g.65493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000440400.3:c.635A>C ENSP00000398393.2:p.Tyr212Ser
ENST00000697712.1:c.494A>C ENSP00000513410.1:p.Tyr165Ser
ENST00000252699.7:c.635A>C MANE Select ENSP00000252699.2:p.Tyr212Ser
ENST00000424234.7:c.635A>C ENSP00000411187.4:p.Tyr212Ser
ENST00000440400.2:c.635A>C ENSP00000398393.2:p.Tyr212Ser
ENST00000252699.6:c.635A>C ENSP00000252699.2:p.Tyr212Ser
ENST00000390009.7:c.163-6290A>C ENSP00000439497.1:n.163-6290A>C
ENST00000424234.6:c.272+7470A>C ENSP00000411187.3:n.272+7470A>C
ENST00000495553.1:n.541A>C
ENST00000586538.1:c.38A>C ENSP00000465176.1:p.Tyr13Ser
ENST00000588618.5:n.732A>C
ENST00000589528.1:c.285+7465A>C
NM_004924.4:c.635A>C NP_004915.2:p.Tyr212Ser
XM_005259281.3:c.635A>C XP_005259338.1:p.Tyr212Ser
XM_005259282.3:c.635A>C XP_005259339.1:p.Tyr212Ser
XM_006723406.1:c.635A>C XP_006723469.1:p.Tyr212Ser
NM_001322033.1:c.635A>C NP_001308962.1:p.Tyr212Ser
NM_004924.5:c.635A>C NP_004915.2:p.Tyr212Ser
XM_005259281.5:c.635A>C XP_005259338.1:p.Tyr212Ser
XM_006723406.3:c.635A>C XP_006723469.1:p.Tyr212Ser
XM_017027331.2:c.635A>C XP_016882820.1:p.Tyr212Ser
XR_001753937.1:n.123-6015T>G
NM_004924.6:c.635A>C MANE Select NP_004915.2:p.Tyr212Ser
NM_001322033.2:c.635A>C NP_001308962.1:p.Tyr212Ser