Canonical Allele Identifier: CA411766229

Gene: NAGA

Linked Data

• gnomAD v4: 22-42060991-G-A
• COSMIC: COSM5569794
• MyVariant Identifiers: chr22:g.42456995G>A (hg19) ; chr22:g.42060991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42060991G>A , CM000684.2:g.42060991G>A	GRCh38
NC_000022.10:g.42456995G>A , CM000684.1:g.42456995G>A	GRCh37
NC_000022.9:g.40786941G>A	NCBI36
NG_009247.1:g.14852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.1034C>T MANE Select	ENSP00000379680.3:p.Thr345Ile
ENST00000396398.7:c.1034C>T	ENSP00000379680.3:p.Thr345Ile
ENST00000402937.1:c.1034C>T	ENSP00000384603.1:p.Thr345Ile
ENST00000403363.5:c.1034C>T	ENSP00000385283.1:p.Thr345Ile
NM_000262.2:c.1034C>T	NP_000253.1:p.Thr345Ile
XM_005261615.3:c.1034C>T	XP_005261672.1:p.Thr345Ile
XM_005261616.3:c.1034C>T	XP_005261673.1:p.Thr345Ile
NM_001362848.1:c.1034C>T	NP_001349777.1:p.Thr345Ile
NM_001362850.1:c.1034C>T	NP_001349779.1:p.Thr345Ile
NM_000262.3:c.1034C>T MANE Select	NP_000253.1:p.Thr345Ile