Canonical Allele Identifier: CA775894500
Gene: NTN1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.9040612T>A
GRCh37 chr17:g.8943929T>A
gnomAD v3:
17:9040612 T / A
gnomAD v4:
chr17-9040612-T-A
Joint Max Group AF 0.00000488 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
dbSNP:
8076457
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.9040612T>A , CM000679.2:g.9040612T>A GRCh38
NC_000017.10:g.8943929T>A , CM000679.1:g.8943929T>A GRCh37
NC_000017.9:g.8884654T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000173229.7:c.1018+17221T>A MANE Select ENSP00000173229.2:n.1018+17221T>A
ENST00000173229.6:c.1018+17221T>A ENSP00000173229.2:n.1018+17221T>A
NM_004822.2:c.1018+17221T>A NP_004813.2:n.1018+17221T>A
XM_006721595.2:c.1018+17221T>A XP_006721658.1:n.1018+17221T>A
XM_006721595.3:c.1018+17221T>A XP_006721658.1:n.1018+17221T>A
NM_004822.3:c.1018+17221T>A MANE Select NP_004813.2:n.1018+17221T>A
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