Canonical Allele Identifier: CA9238259
Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2161336
ClinVar RCV Id: RCV003089440
dbSNP Id: rs142460106
ExAC: 19:13246363 G / A
gnomAD v2: 19-13246363-G-A
gnomAD v3: 19-13135549-G-A
gnomAD v4: 19-13135549-G-A
COSMIC: COSM1258670
MyVariant Identifiers: chr19:g.13246363G>A (hg19) chr19:g.13135549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135549G>A , CM000681.2:g.13135549G>A GRCh38
NC_000019.9:g.13246363G>A , CM000681.1:g.13246363G>A GRCh37
NC_000019.8:g.13107363G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.342G>A ENSP00000467120.2:p.Glu114=
ENST00000700232.1:c.342G>A ENSP00000514870.1:p.Glu114=
ENST00000292431.5:c.342G>A MANE Select ENSP00000292431.3:p.Glu114=
ENST00000586171.2:c.342G>A ENSP00000467120.1:p.Glu114=
ENST00000292431.4:c.342G>A ENSP00000292431.3:p.Glu114=
ENST00000586171.1:c.342G>A ENSP00000467120.1:p.Glu114=
NM_052876.3:c.342G>A NP_443108.1:p.Glu114=
XM_005259721.2:c.342G>A XP_005259778.1:p.Glu114=
XM_005259721.3:c.342G>A XP_005259778.1:p.Glu114=
NM_052876.4:c.342G>A MANE Select NP_443108.1:p.Glu114=
Search 100 bp 5'
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