Canonical Allele Identifier: CA324655977

Gene: NAGA

Linked Data

• dbSNP Id: rs1048863930
• gnomAD v3: 22-42066339-C-G
• gnomAD v4: 22-42066339-C-G
• MyVariant Identifiers: chr22:g.42462343C>G (hg19) ; chr22:g.42066339C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42066339C>G , CM000684.2:g.42066339C>G	GRCh38
NC_000022.10:g.42462343C>G , CM000684.1:g.42462343C>G	GRCh37
NC_000022.9:g.40792289C>G	NCBI36
NG_009247.1:g.9504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.597+371G>C MANE Select	ENSP00000379680.3:n.597+371G>C
ENST00000396398.7:c.597+371G>C	ENSP00000379680.3:n.597+371G>C
ENST00000402937.1:c.597+371G>C	ENSP00000384603.1:n.597+371G>C
ENST00000403363.5:c.597+371G>C	ENSP00000385283.1:n.597+371G>C
NM_000262.2:c.597+371G>C	NP_000253.1:n.597+371G>C
XM_005261615.3:c.597+371G>C	XP_005261672.1:n.597+371G>C
XM_005261616.3:c.597+371G>C	XP_005261673.1:n.597+371G>C
NM_001362848.1:c.597+371G>C	NP_001349777.1:n.597+371G>C
NM_001362850.1:c.597+371G>C	NP_001349779.1:n.597+371G>C
NM_000262.3:c.597+371G>C MANE Select	NP_000253.1:n.597+371G>C