Canonical Allele Identifier: CA457023375
Community Standard Title: NM_005045.4(RELN):c.9447G>T (p.Ser3149=)
Gene: RELN HGNC NCBI
SLC26A5-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103490826C>A , CM000669.2:g.103490826C>A GRCh38
NC_000007.13:g.103131273C>A , CM000669.1:g.103131273C>A GRCh37
NC_000007.12:g.102918509C>A NCBI36
NG_011877.1:g.503691G>T
NG_011877.2:g.503691G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005045.4:c.9447G>T (RELN) MANE Select NP_005036.2:p.Ser3149=
ENST00000428762.6:c.9447G>T (RELN) MANE Select ENSP00000392423.1:p.Ser3149=
NM_005045.3:c.9447G>T (RELN) NP_005036.2:p.Ser3149=
NM_173054.2:c.9447G>T (RELN) NP_774959.1:p.Ser3149=
NM_173054.3:c.9447G>T (RELN) NP_774959.1:p.Ser3149=
NR_110141.1:n.1366-13578C>A (SLC26A5-AS1)
ENST00000343529.9:c.9447G>T (RELN) ENSP00000345694.5:p.Ser3149=
ENST00000424685.2:c.9447G>T (RELN) ENSP00000388446.2:p.Ser3149=
ENST00000424685.3:c.9447G>T (RELN) ENSP00000388446.3:p.Ser3149=
ENST00000428762.5:c.9447G>T (RELN) ENSP00000392423.1:p.Ser3149=
ENST00000679371.1:n.1204G>T (RELN)
ENST00000679867.1:n.9331G>T (RELN)
ENST00000680248.1:n.2999G>T (RELN)
ENST00000681034.1:c.9447G>T (RELN) ENSP00000506075.1:p.Ser3149=
ENST00000681364.1:n.2696G>T (RELN)
ENST00000681921.1:n.3671G>T (RELN)