Canonical Allele Identifier: CA10606124
Gene: RELN HGNC NCBI
SLC26A5-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.103503158C>T
GRCh37 chr7:g.103143605C>T
Revel Score:
ENST00000428762 (MANE Select) 0.765
ENST00000343529 0.765
ENST00000424685 0.765
ENST00000424828 0.765
ENST00000448171 0.765
gnomAD v2:
7:103143605 C / T
gnomAD v3:
7:103503158 C / T
gnomAD v4:
chr7-103503158-C-T
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar RCV:
RCV000297527
RCV002518041
ClinVar Variation:
288532
dbSNP:
794727997
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103503158C>T , CM000669.2:g.103503158C>T GRCh38
NC_000007.13:g.103143605C>T , CM000669.1:g.103143605C>T GRCh37
NC_000007.12:g.102930841C>T NCBI36
NG_011877.1:g.491359G>A
NG_011877.2:g.491359G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.8347G>A (RELN) ENSP00000388446.3:p.Gly2783Ser
ENST00000428762.6:c.8347G>A (RELN) MANE Select ENSP00000392423.1:p.Gly2783Ser
ENST00000679867.1:n.8231G>A (RELN)
ENST00000680248.1:n.1899G>A (RELN)
ENST00000681034.1:c.8347G>A (RELN) ENSP00000506075.1:p.Gly2783Ser
ENST00000681364.1:n.1596G>A (RELN)
ENST00000681921.1:n.478G>A (RELN)
ENST00000343529.9:c.8347G>A (RELN) ENSP00000345694.5:p.Gly2783Ser
ENST00000424685.2:c.8347G>A (RELN) ENSP00000388446.2:p.Gly2783Ser
ENST00000428762.5:c.8347G>A (RELN) ENSP00000392423.1:p.Gly2783Ser
NM_005045.3:c.8347G>A (RELN) NP_005036.2:p.Gly2783Ser
NM_173054.2:c.8347G>A (RELN) NP_774959.1:p.Gly2783Ser
NR_110141.1:n.1366-1246C>T (SLC26A5-AS1)
NM_005045.4:c.8347G>A (RELN) MANE Select NP_005036.2:p.Gly2783Ser
NM_173054.3:c.8347G>A (RELN) NP_774959.1:p.Gly2783Ser
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