Canonical Allele Identifier: CA368771148
Gene: RELN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103545268A>G , CM000669.2:g.103545268A>G GRCh38
NC_000007.13:g.103185715A>G , CM000669.1:g.103185715A>G GRCh37
NC_000007.12:g.102972951A>G NCBI36
NG_011877.1:g.449249T>C
NG_011877.2:g.449249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.6379T>C ENSP00000388446.3:p.Tyr2127His
ENST00000428762.6:c.6379T>C MANE Select ENSP00000392423.1:p.Tyr2127His
ENST00000679867.1:n.6263T>C
ENST00000679952.1:n.171T>C
ENST00000681034.1:c.6379T>C ENSP00000506075.1:p.Tyr2127His
ENST00000681199.1:n.2147T>C
ENST00000343529.9:c.6379T>C ENSP00000345694.5:p.Tyr2127His
ENST00000424685.2:c.6379T>C ENSP00000388446.2:p.Tyr2127His
ENST00000428762.5:c.6379T>C ENSP00000392423.1:p.Tyr2127His
NM_005045.3:c.6379T>C NP_005036.2:p.Tyr2127His
NM_173054.2:c.6379T>C NP_774959.1:p.Tyr2127His
NM_005045.4:c.6379T>C MANE Select NP_005036.2:p.Tyr2127His
NM_173054.3:c.6379T>C NP_774959.1:p.Tyr2127His