Canonical Allele Identifier: CA402697734
Gene: RTTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70166994T>A , CM000680.2:g.70166994T>A GRCh38
NC_000018.9:g.67834230T>A , CM000680.1:g.67834230T>A GRCh37
NC_000018.8:g.65985210T>A NCBI36
NG_033104.1:g.43733A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255674.11:c.1727A>T ENSP00000255674.7:p.Asp576Val
ENST00000638251.1:c.1727A>T ENSP00000491968.1:p.Asp576Val
ENST00000640376.1:c.1208A>T ENSP00000491654.1:p.Asp403Val
ENST00000640769.2:c.1727A>T MANE Select ENSP00000491507.1:p.Asp576Val
ENST00000255674.10:c.1727A>T ENSP00000255674.6:p.Asp576Val
ENST00000581161.5:c.*130A>T ENSP00000462926.1:n.*130A>T
ENST00000581583.1:n.1795A>T
ENST00000583043.5:c.1097A>T ENSP00000462733.1:p.Asp366Val
ENST00000584659.5:n.323A>T
NM_173630.3:c.1727A>T NP_775901.3:p.Asp576Val
XM_005266679.1:c.-921A>T XP_005266736.1:n.-921A>T
XM_006722434.2:c.1727A>T XP_006722497.1:p.Asp576Val
XM_006722435.2:c.1727A>T XP_006722498.1:p.Asp576Val
XM_011525902.1:c.1727A>T XP_011524204.1:p.Asp576Val
XM_011525903.1:c.1727A>T XP_011524205.1:p.Asp576Val
XM_011525904.1:c.1727A>T XP_011524206.1:p.Asp576Val
XM_011525905.1:c.1727A>T XP_011524207.1:p.Asp576Val
XM_011525906.1:c.227A>T XP_011524208.1:p.Asp76Val
XM_011525907.1:c.1727A>T XP_011524209.1:p.Asp576Val
XM_011525908.1:c.1727A>T XP_011524210.1:p.Asp576Val
XR_430072.2:n.1765A>T
XR_935213.1:n.1765A>T
NM_001318520.1:c.-921A>T NP_001305449.1:n.-921A>T
XM_006722434.3:c.1727A>T XP_006722497.1:p.Asp576Val
XM_006722435.3:c.1727A>T XP_006722498.1:p.Asp576Val
XM_011525902.2:c.1727A>T XP_011524204.1:p.Asp576Val
XM_011525903.2:c.1727A>T XP_011524205.1:p.Asp576Val
XM_011525904.3:c.1727A>T XP_011524206.1:p.Asp576Val
XM_011525905.2:c.1727A>T XP_011524207.1:p.Asp576Val
XM_011525906.2:c.227A>T XP_011524208.1:p.Asp76Val
XM_011525907.2:c.1727A>T XP_011524209.1:p.Asp576Val
XM_011525908.3:c.1727A>T XP_011524210.1:p.Asp576Val
XM_017025693.1:c.1727A>T XP_016881182.1:p.Asp576Val
XM_017025694.1:c.1085A>T XP_016881183.1:p.Asp362Val
XM_017025695.1:c.662A>T XP_016881184.1:p.Asp221Val
XM_017025696.1:c.-445A>T XP_016881185.1:n.-445A>T
XM_024451139.1:c.947A>T XP_024306907.1:p.Asp316Val
XM_024451140.1:c.947A>T XP_024306908.1:p.Asp316Val
XR_430072.3:n.1795A>T
XR_935213.2:n.1795A>T
NM_001318520.2:c.-921A>T NP_001305449.1:n.-921A>T
NM_173630.4:c.1727A>T MANE Select NP_775901.3:p.Asp576Val