Canonical Allele Identifier: CA9117709
Gene: NRTN HGNC NCBI

Linked Data

ClinVar Variation Id: 259427
ClinVar RCV Id: RCV000244407
dbSNP Id: rs79744308
ExAC: 19:5827765 G / A
gnomAD v2: 19-5827765-G-A
gnomAD v3: 19-5827754-G-A
gnomAD v4: 19-5827754-G-A
MyVariant Identifiers: chr19:g.5827765G>A (hg19) chr19:g.5827754G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5827754G>A , CM000681.2:g.5827754G>A GRCh38
NC_000019.9:g.5827765G>A , CM000681.1:g.5827765G>A GRCh37
NC_000019.8:g.5778765G>A NCBI36
NG_008202.1:g.8948G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303212.3:c.175G>A MANE Select ENSP00000302648.1:p.Ala59Thr
ENST00000303212.2:c.175G>A ENSP00000302648.1:p.Ala59Thr
NM_004558.3:c.175G>A NP_004549.1:p.Ala59Thr
XM_011528041.1:c.175G>A XP_011526343.1:p.Ala59Thr
NM_004558.4:c.175G>A NP_004549.1:p.Ala59Thr
XM_011528041.2:c.175G>A XP_011526343.1:p.Ala59Thr
NM_004558.5:c.175G>A MANE Select NP_004549.1:p.Ala59Thr
Search 100 bp 5'
Search 100 bp 3'