Canonical Allele Identifier: CA368771261
Gene: RELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103545320C>A , CM000669.2:g.103545320C>A GRCh38
NC_000007.13:g.103185767C>A , CM000669.1:g.103185767C>A GRCh37
NC_000007.12:g.102973003C>A NCBI36
NG_011877.1:g.449197G>T
NG_011877.2:g.449197G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6327G>T ENSP00000388446.3:p.Gln2109His
ENST00000428762.6:c.6327G>T MANE Select ENSP00000392423.1:p.Gln2109His
ENST00000679867.1:n.6211G>T
ENST00000679952.1:n.119G>T
ENST00000681034.1:c.6327G>T ENSP00000506075.1:p.Gln2109His
ENST00000681199.1:n.2095G>T
ENST00000343529.9:c.6327G>T ENSP00000345694.5:p.Gln2109His
ENST00000424685.2:c.6327G>T ENSP00000388446.2:p.Gln2109His
ENST00000428762.5:c.6327G>T ENSP00000392423.1:p.Gln2109His
NM_005045.3:c.6327G>T NP_005036.2:p.Gln2109His
NM_173054.2:c.6327G>T NP_774959.1:p.Gln2109His
NM_005045.4:c.6327G>T MANE Select NP_005036.2:p.Gln2109His
NM_173054.3:c.6327G>T NP_774959.1:p.Gln2109His