Canonical Allele Identifier: CA4420182

Gene: RELN SLC26A5-AS1

Linked Data

• ClinVar Variation Id: 498490
• ClinVar RCV Id: RCV000592188 ; RCV001047948
• dbSNP Id: rs376881823
• ExAC: 7:103131109 A / T
• gnomAD v2: 7-103131109-A-T
• gnomAD v3: 7-103490662-A-T
• gnomAD v4: 7-103490662-A-T
• MyVariant Identifiers: chr7:g.103131109A>T (hg19) ; chr7:g.103490662A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103490662A>T , CM000669.2:g.103490662A>T	GRCh38
NC_000007.13:g.103131109A>T , CM000669.1:g.103131109A>T	GRCh37
NC_000007.12:g.102918345A>T	NCBI36
NG_011877.1:g.503855T>A
NG_011877.2:g.503855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.9605+6T>A (RELN)	ENSP00000388446.3:n.9605+6T>A
ENST00000428762.6:c.9605+6T>A (RELN) MANE Select	ENSP00000392423.1:n.9605+6T>A
ENST00000679371.1:n.1362+6T>A (RELN)
ENST00000679867.1:n.9489+6T>A (RELN)
ENST00000680248.1:n.3157+6T>A (RELN)
ENST00000681034.1:c.9605+6T>A (RELN)	ENSP00000506075.1:n.9605+6T>A
ENST00000681364.1:n.2854+6T>A (RELN)
ENST00000681921.1:n.3829+6T>A (RELN)
ENST00000343529.9:c.9605+6T>A (RELN)	ENSP00000345694.5:n.9605+6T>A
ENST00000424685.2:c.9605+6T>A (RELN)	ENSP00000388446.2:n.9605+6T>A
ENST00000428762.5:c.9605+6T>A (RELN)	ENSP00000392423.1:n.9605+6T>A
NM_005045.3:c.9605+6T>A (RELN)	NP_005036.2:n.9605+6T>A
NM_173054.2:c.9605+6T>A (RELN)	NP_774959.1:n.9605+6T>A
NR_110141.1:n.1366-13742A>T (SLC26A5-AS1)
NM_005045.4:c.9605+6T>A (RELN) MANE Select	NP_005036.2:n.9605+6T>A
NM_173054.3:c.9605+6T>A (RELN)	NP_774959.1:n.9605+6T>A