Canonical Allele Identifier: CA368760451
Gene: RELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103635577C>G , CM000669.2:g.103635577C>G GRCh38
NC_000007.13:g.103276024C>G , CM000669.1:g.103276024C>G GRCh37
NC_000007.12:g.103063260C>G NCBI36
NG_011877.1:g.358940G>C
NG_011877.2:g.358940G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.2313G>C ENSP00000388446.3:p.Gln771His
ENST00000428762.6:c.2313G>C MANE Select ENSP00000392423.1:p.Gln771His
ENST00000473457.2:n.2577G>C
ENST00000679867.1:n.2197G>C
ENST00000680706.1:n.16G>C
ENST00000680712.1:n.2030G>C
ENST00000681034.1:c.2313G>C ENSP00000506075.1:p.Gln771His
ENST00000343529.9:c.2313G>C ENSP00000345694.5:p.Gln771His
ENST00000424685.2:c.2313G>C ENSP00000388446.2:p.Gln771His
ENST00000428762.5:c.2313G>C ENSP00000392423.1:p.Gln771His
NM_005045.3:c.2313G>C NP_005036.2:p.Gln771His
NM_173054.2:c.2313G>C NP_774959.1:p.Gln771His
NM_005045.4:c.2313G>C MANE Select NP_005036.2:p.Gln771His
NM_173054.3:c.2313G>C NP_774959.1:p.Gln771His