Canonical Allele Identifier: CA402694587
Gene: RTTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70059923T>G , CM000680.2:g.70059923T>G GRCh38
NC_000018.9:g.67727159T>G , CM000680.1:g.67727159T>G GRCh37
NC_000018.8:g.65878139T>G NCBI36
NG_033104.1:g.150804A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255674.11:c.4867A>C ENSP00000255674.7:p.Asn1623His
ENST00000579986.6:c.954A>C ENSP00000491518.1:p.Thr318=
ENST00000639128.1:n.2413A>C
ENST00000639487.1:c.21A>C
ENST00000640769.2:c.4867A>C MANE Select ENSP00000491507.1:p.Asn1623His
ENST00000677824.1:c.2266A>C ENSP00000504646.1:p.Asn756His
ENST00000679113.1:c.2219A>C ENSP00000504487.1:n.2219A>C
ENST00000255674.10:c.4867A>C ENSP00000255674.6:p.Asn1623His
ENST00000581161.5:c.*3181A>C ENSP00000462926.1:n.*3181A>C
ENST00000583043.5:c.4148A>C ENSP00000462733.1:n.4148A>C
NM_173630.3:c.4867A>C NP_775901.3:p.Asn1623His
XM_005266679.1:c.2131A>C XP_005266736.1:p.Asn711His
XM_006722434.2:c.4870A>C XP_006722497.1:p.Asn1624His
XM_006722435.2:c.4870A>C XP_006722498.1:p.Asn1624His
XM_011525902.1:c.4630A>C XP_011524204.1:p.Asn1544His
XM_011525903.1:c.4441A>C XP_011524205.1:p.Asn1481His
XM_011525904.1:c.4870A>C XP_011524206.1:p.Asn1624His
XM_011525905.1:c.4870A>C XP_011524207.1:p.Asn1624His
XM_011525906.1:c.3370A>C XP_011524208.1:p.Asn1124His
XR_430072.2:n.4908A>C
NM_001318520.1:c.2131A>C NP_001305449.1:p.Asn711His
XM_006722434.3:c.4870A>C XP_006722497.1:p.Asn1624His
XM_006722435.3:c.4870A>C XP_006722498.1:p.Asn1624His
XM_011525902.2:c.4630A>C XP_011524204.1:p.Asn1544His
XM_011525903.2:c.4441A>C XP_011524205.1:p.Asn1481His
XM_011525904.3:c.4870A>C XP_011524206.1:p.Asn1624His
XM_011525905.2:c.4870A>C XP_011524207.1:p.Asn1624His
XM_011525906.2:c.3370A>C XP_011524208.1:p.Asn1124His
XM_017025693.1:c.4627A>C XP_016881182.1:p.Asn1543His
XM_017025694.1:c.4228A>C XP_016881183.1:p.Asn1410His
XM_017025695.1:c.3805A>C XP_016881184.1:p.Asn1269His
XM_017025696.1:c.2761A>C XP_016881185.1:p.Asn921His
XM_024451139.1:c.4090A>C XP_024306907.1:p.Asn1364His
XM_024451140.1:c.4090A>C XP_024306908.1:p.Asn1364His
XR_430072.3:n.4938A>C
NM_001318520.2:c.2131A>C NP_001305449.1:p.Asn711His
NM_173630.4:c.4867A>C MANE Select NP_775901.3:p.Asn1623His