Canonical Allele Identifier: CA10622868

Gene: RELN SLC26A5-AS1

Linked Data

• ClinVar Variation Id: 358376
• ClinVar RCV Id: RCV000339930
• dbSNP Id: rs886061854
• gnomAD v2: 7-103113362-A-C
• gnomAD v4: 7-103472915-A-C
• MyVariant Identifiers: chr7:g.103113362A>C (hg19) ; chr7:g.103472915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103472915A>C , CM000669.2:g.103472915A>C	GRCh38
NC_000007.13:g.103113362A>C , CM000669.1:g.103113362A>C	GRCh37
NC_000007.12:g.102900598A>C	NCBI36
NG_011877.1:g.521602T>G
NG_011877.2:g.521602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.*7-7T>G (RELN)	ENSP00000388446.3:n.*7-7T>G
ENST00000428762.6:c.10287-7T>G (RELN) MANE Select	ENSP00000392423.1:n.10287-7T>G
ENST00000429186.2:c.302-7T>G (RELN)	ENSP00000404818.2:n.302-7T>G
ENST00000679371.1:n.2038-7T>G (RELN)
ENST00000680248.1:n.3833-7T>G (RELN)
ENST00000681034.1:c.*90-7T>G (RELN)	ENSP00000506075.1:n.*90-7T>G
ENST00000681364.1:n.3530-7T>G (RELN)
ENST00000343529.9:c.10281-7T>G (RELN)	ENSP00000345694.5:n.10281-7T>G
ENST00000424685.2:c.10284T>G (RELN)	ENSP00000388446.2:p.Phe3428Leu
ENST00000428762.5:c.10287-7T>G (RELN)	ENSP00000392423.1:n.10287-7T>G
ENST00000429186.1:c.213-7T>G (RELN)
NM_005045.3:c.10287-7T>G (RELN)	NP_005036.2:n.10287-7T>G
NM_173054.2:c.10281-7T>G (RELN)	NP_774959.1:n.10281-7T>G
NR_110141.1:n.1365+26247A>C (SLC26A5-AS1)
NM_005045.4:c.10287-7T>G (RELN) MANE Select	NP_005036.2:n.10287-7T>G
NM_173054.3:c.10281-7T>G (RELN)	NP_774959.1:n.10281-7T>G