Canonical Allele Identifier: CA9117763
Gene: NRTN HGNC NCBI

Linked Data

ClinVar Variation Id: 259428
ClinVar RCV Id: RCV000249168
dbSNP Id: rs7255720
ExAC: 19:5828064 G / C
gnomAD v2: 19-5828064-G-C
gnomAD v3: 19-5828053-G-C
gnomAD v4: 19-5828053-G-C
MyVariant Identifiers: chr19:g.5828064G>C (hg19) chr19:g.5828053G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5828053G>C , CM000681.2:g.5828053G>C GRCh38
NC_000019.9:g.5828064G>C , CM000681.1:g.5828064G>C GRCh37
NC_000019.8:g.5779064G>C NCBI36
NG_008202.1:g.9247G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303212.3:c.474G>C MANE Select ENSP00000302648.1:p.Arg158=
ENST00000303212.2:c.474G>C ENSP00000302648.1:p.Arg158=
NM_004558.3:c.474G>C NP_004549.1:p.Arg158=
XM_011528041.1:c.474G>C XP_011526343.1:p.Arg158=
NM_004558.4:c.474G>C NP_004549.1:p.Arg158=
XM_011528041.2:c.474G>C XP_011526343.1:p.Arg158=
NM_004558.5:c.474G>C MANE Select NP_004549.1:p.Arg158=
Search 100 bp 5'
Search 100 bp 3'