Canonical Allele Identifier: CA358258108

Gene: NAA15

Linked Data

• ClinVar Variation Id: 1321282
• ClinVar RCV Id: RCV001779383
• dbSNP Id: rs764328356
• gnomAD v2: 4-140258005-C-A
• gnomAD v4: 4-139336851-C-A
• MyVariant Identifiers: chr4:g.140258005C>A (hg19) ; chr4:g.139336851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139336851C>A , CM000666.2:g.139336851C>A	GRCh38
NC_000004.11:g.140258005C>A , CM000666.1:g.140258005C>A	GRCh37
NC_000004.10:g.140477455C>A	NCBI36
NG_053037.1:g.40385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468029.2:c.143C>A	ENSP00000514912.1:p.Thr48Asn
ENST00000700275.1:c.143C>A	ENSP00000514910.1:p.Thr48Asn
ENST00000700276.1:c.139+2593C>A	ENSP00000514911.1:n.139+2593C>A
ENST00000700277.1:c.143C>A	ENSP00000514913.1:p.Thr48Asn
ENST00000700278.1:n.320C>A
ENST00000700279.1:n.401C>A
ENST00000296543.10:c.143C>A MANE Select	ENSP00000296543.4:p.Thr48Asn
ENST00000296543.9:c.143C>A	ENSP00000296543.4:p.Thr48Asn
ENST00000398947.1:c.143C>A	ENSP00000381920.1:p.Thr48Asn
ENST00000482087.1:n.287C>A
NM_057175.3:c.143C>A	NP_476516.1:p.Thr48Asn
XM_005263236.1:c.143C>A	XP_005263293.1:p.Thr48Asn
NM_057175.4:c.143C>A	NP_476516.1:p.Thr48Asn
XM_005263236.3:c.143C>A	XP_005263293.1:p.Thr48Asn
NM_057175.5:c.143C>A MANE Select	NP_476516.1:p.Thr48Asn