Canonical Allele Identifier: CA411769172

Gene: NAGA

Linked Data

• gnomAD v4: 22-42067845-T-G
• MyVariant Identifiers: chr22:g.42463849T>G (hg19) ; chr22:g.42067845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42067845T>G , CM000684.2:g.42067845T>G	GRCh38
NC_000022.10:g.42463849T>G , CM000684.1:g.42463849T>G	GRCh37
NC_000022.9:g.40793795T>G	NCBI36
NG_009247.1:g.7998A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.244A>C MANE Select	ENSP00000379680.3:p.Ile82Leu
ENST00000396398.7:c.244A>C	ENSP00000379680.3:p.Ile82Leu
ENST00000402937.1:c.244A>C	ENSP00000384603.1:p.Ile82Leu
ENST00000403363.5:c.244A>C	ENSP00000385283.1:p.Ile82Leu
NM_000262.2:c.244A>C	NP_000253.1:p.Ile82Leu
XM_005261615.3:c.244A>C	XP_005261672.1:p.Ile82Leu
XM_005261616.3:c.244A>C	XP_005261673.1:p.Ile82Leu
NM_001362848.1:c.244A>C	NP_001349777.1:p.Ile82Leu
NM_001362850.1:c.244A>C	NP_001349779.1:p.Ile82Leu
NM_000262.3:c.244A>C MANE Select	NP_000253.1:p.Ile82Leu