Canonical Allele Identifier: CA368767747
Gene: RELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103523427C>T , CM000669.2:g.103523427C>T GRCh38
NC_000007.13:g.103163874C>T , CM000669.1:g.103163874C>T GRCh37
NC_000007.12:g.102951110C>T NCBI36
NG_011877.1:g.471090G>A
NG_011877.2:g.471090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.7454G>A ENSP00000388446.3:p.Cys2485Tyr
ENST00000428762.6:c.7454G>A MANE Select ENSP00000392423.1:p.Cys2485Tyr
ENST00000478148.2:n.695G>A
ENST00000679867.1:n.7338G>A
ENST00000679952.1:n.1382G>A
ENST00000681034.1:c.7454G>A ENSP00000506075.1:p.Cys2485Tyr
ENST00000681364.1:n.703G>A
ENST00000343529.9:c.7454G>A ENSP00000345694.5:p.Cys2485Tyr
ENST00000424685.2:c.7454G>A ENSP00000388446.2:p.Cys2485Tyr
ENST00000428762.5:c.7454G>A ENSP00000392423.1:p.Cys2485Tyr
NM_005045.3:c.7454G>A NP_005036.2:p.Cys2485Tyr
NM_173054.2:c.7454G>A NP_774959.1:p.Cys2485Tyr
NM_005045.4:c.7454G>A MANE Select NP_005036.2:p.Cys2485Tyr
NM_173054.3:c.7454G>A NP_774959.1:p.Cys2485Tyr