Canonical Allele Identifier: CA9323261
Gene: NCAN HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.19219115C>A
GRCh37 chr19:g.19329924C>A
Revel Score:
ENST00000539499 0.086
ENST00000252575 (MANE Select) 0.086
gnomAD v2:
19:19329924 C / A
gnomAD v3:
19:19219115 C / A
gnomAD v4:
chr19-19219115-C-A
Joint Max Group AF 0.00022316 (EAS)
Genomes Max Group AF 0.00026283 (EAS)
Exomes Max Group AF 0.00017449 (EAS)
dbSNP:
2228603
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.19219115C>A , CM000681.2:g.19219115C>A GRCh38
NC_000019.9:g.19329924C>A , CM000681.1:g.19329924C>A GRCh37
NC_000019.8:g.19190924C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000252575.11:c.274C>A MANE Select ENSP00000252575.4:p.Pro92Thr
ENST00000252575.10:c.274C>A ENSP00000252575.4:p.Pro92Thr
NM_004386.2:c.274C>A NP_004377.2:p.Pro92Thr
XM_005259747.1:c.274C>A XP_005259804.1:p.Pro92Thr
NM_004386.3:c.274C>A MANE Select NP_004377.2:p.Pro92Thr
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