Canonical Allele Identifier: CA10263763

Gene: NAGA

Linked Data

• dbSNP Id: rs139027070
• ExAC: 22:42462719 G / T
• gnomAD v2: 22-42462719-G-T
• gnomAD v3: 22-42066715-G-T
• gnomAD v4: 22-42066715-G-T
• MyVariant Identifiers: chr22:g.42462719G>T (hg19) ; chr22:g.42066715G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066715G>T , CM000684.2:g.42066715G>T	GRCh38
NC_000022.10:g.42462719G>T , CM000684.1:g.42462719G>T	GRCh37
NC_000022.9:g.40792665G>T	NCBI36
NG_009247.1:g.9128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.592C>A MANE Select	ENSP00000379680.3:p.Pro198Thr
ENST00000396398.7:c.592C>A	ENSP00000379680.3:p.Pro198Thr
ENST00000402937.1:c.592C>A	ENSP00000384603.1:p.Pro198Thr
ENST00000403363.5:c.592C>A	ENSP00000385283.1:p.Pro198Thr
NM_000262.2:c.592C>A	NP_000253.1:p.Pro198Thr
XM_005261615.3:c.592C>A	XP_005261672.1:p.Pro198Thr
XM_005261616.3:c.592C>A	XP_005261673.1:p.Pro198Thr
NM_001362848.1:c.592C>A	NP_001349777.1:p.Pro198Thr
NM_001362850.1:c.592C>A	NP_001349779.1:p.Pro198Thr
NM_000262.3:c.592C>A MANE Select	NP_000253.1:p.Pro198Thr