Canonical Allele Identifier: CA246949

Gene: RELN SLC26A5-AS1

Linked Data

• ClinVar Variation Id: 198353
• ClinVar RCV Id: RCV000179652
• dbSNP Id: rs794727828
• MyVariant Identifiers: chr7:g.103113293T>C (hg19) ; chr7:g.103472846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103472846T>C , CM000669.2:g.103472846T>C	GRCh38
NC_000007.13:g.103113293T>C , CM000669.1:g.103113293T>C	GRCh37
NC_000007.12:g.102900529T>C	NCBI36
NG_011877.1:g.521671A>G
NG_011877.2:g.521671A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.*69A>G (RELN)	ENSP00000388446.3:n.*69A>G
ENST00000428762.6:c.10349A>G (RELN) MANE Select	ENSP00000392423.1:p.Asn3450Ser
ENST00000429186.2:c.364A>G (RELN)	ENSP00000404818.2:n.364A>G
ENST00000679371.1:n.2100A>G (RELN)
ENST00000680248.1:n.3895A>G (RELN)
ENST00000681034.1:c.*152A>G (RELN)	ENSP00000506075.1:n.*152A>G
ENST00000681364.1:n.3592A>G (RELN)
ENST00000343529.9:c.10343A>G (RELN)	ENSP00000345694.5:p.Asn3448Ser
ENST00000424685.2:c.10349A>G (RELN)	ENSP00000388446.2:p.Asn3450Ser
ENST00000428762.5:c.10349A>G (RELN)	ENSP00000392423.1:p.Asn3450Ser
ENST00000429186.1:c.275A>G (RELN)
NM_005045.3:c.10349A>G (RELN)	NP_005036.2:p.Asn3450Ser
NM_173054.2:c.10343A>G (RELN)	NP_774959.1:p.Asn3448Ser
NR_110141.1:n.1365+26178T>C (SLC26A5-AS1)
NM_005045.4:c.10349A>G (RELN) MANE Select	NP_005036.2:p.Asn3450Ser
NM_173054.3:c.10343A>G (RELN)	NP_774959.1:p.Asn3448Ser