Canonical Allele Identifier: CA402694606
Gene: RTTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.70059926C>A , CM000680.2:g.70059926C>A GRCh38
NC_000018.9:g.67727162C>A , CM000680.1:g.67727162C>A GRCh37
NC_000018.8:g.65878142C>A NCBI36
NG_033104.1:g.150801G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255674.11:c.4864G>T ENSP00000255674.7:p.Asp1622Tyr
ENST00000579986.6:c.951G>T ENSP00000491518.1:p.Trp317Cys
ENST00000639128.1:n.2410G>T
ENST00000639487.1:c.18G>T
ENST00000640769.2:c.4864G>T MANE Select ENSP00000491507.1:p.Asp1622Tyr
ENST00000677824.1:c.2263G>T ENSP00000504646.1:p.Asp755Tyr
ENST00000679113.1:c.2216G>T ENSP00000504487.1:n.2216G>T
ENST00000255674.10:c.4864G>T ENSP00000255674.6:p.Asp1622Tyr
ENST00000581161.5:c.*3178G>T ENSP00000462926.1:n.*3178G>T
ENST00000583043.5:c.4145G>T ENSP00000462733.1:n.4145G>T
NM_173630.3:c.4864G>T NP_775901.3:p.Asp1622Tyr
XM_005266679.1:c.2128G>T XP_005266736.1:p.Asp710Tyr
XM_006722434.2:c.4867G>T XP_006722497.1:p.Asp1623Tyr
XM_006722435.2:c.4867G>T XP_006722498.1:p.Asp1623Tyr
XM_011525902.1:c.4627G>T XP_011524204.1:p.Asp1543Tyr
XM_011525903.1:c.4438G>T XP_011524205.1:p.Asp1480Tyr
XM_011525904.1:c.4867G>T XP_011524206.1:p.Asp1623Tyr
XM_011525905.1:c.4867G>T XP_011524207.1:p.Asp1623Tyr
XM_011525906.1:c.3367G>T XP_011524208.1:p.Asp1123Tyr
XR_430072.2:n.4905G>T
NM_001318520.1:c.2128G>T NP_001305449.1:p.Asp710Tyr
XM_006722434.3:c.4867G>T XP_006722497.1:p.Asp1623Tyr
XM_006722435.3:c.4867G>T XP_006722498.1:p.Asp1623Tyr
XM_011525902.2:c.4627G>T XP_011524204.1:p.Asp1543Tyr
XM_011525903.2:c.4438G>T XP_011524205.1:p.Asp1480Tyr
XM_011525904.3:c.4867G>T XP_011524206.1:p.Asp1623Tyr
XM_011525905.2:c.4867G>T XP_011524207.1:p.Asp1623Tyr
XM_011525906.2:c.3367G>T XP_011524208.1:p.Asp1123Tyr
XM_017025693.1:c.4624G>T XP_016881182.1:p.Asp1542Tyr
XM_017025694.1:c.4225G>T XP_016881183.1:p.Asp1409Tyr
XM_017025695.1:c.3802G>T XP_016881184.1:p.Asp1268Tyr
XM_017025696.1:c.2758G>T XP_016881185.1:p.Asp920Tyr
XM_024451139.1:c.4087G>T XP_024306907.1:p.Asp1363Tyr
XM_024451140.1:c.4087G>T XP_024306908.1:p.Asp1363Tyr
XR_430072.3:n.4935G>T
NM_001318520.2:c.2128G>T NP_001305449.1:p.Asp710Tyr
NM_173630.4:c.4864G>T MANE Select NP_775901.3:p.Asp1622Tyr