Canonical Allele Identifier: CA412992948

Gene: NYX

Linked Data

• ClinVar Variation Id: 2092143
• ClinVar RCV Id: RCV003015961
• dbSNP Id: rs1484600008
• gnomAD v2: X-41333885-C-G
• gnomAD v4: X-41474632-C-G
• MyVariant Identifiers: chrX:g.41333885C>G (hg19) ; chrX:g.41474632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41474632C>G , CM000685.2:g.41474632C>G	GRCh38
NC_000023.10:g.41333885C>G , CM000685.1:g.41333885C>G	GRCh37
NC_000023.9:g.41218829C>G	NCBI36
NG_009112.1:g.32173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342595.3:c.1164C>G	ENSP00000340328.3:p.Asn388Lys
ENST00000378220.3:c.1164C>G MANE Select	ENSP00000367465.2:p.Asn388Lys
ENST00000378220.2:c.1179C>G	ENSP00000367465.1:p.Asn393Lys
ENST00000342595.2:c.1179C>G	ENSP00000340328.2:p.Asn393Lys
ENST00000378220.1:c.1179C>G	ENSP00000367465.1:p.Asn393Lys
NM_022567.2:c.1179C>G	NP_072089.1:p.Asn393Lys
XM_005272632.2:c.1179C>G	XP_005272689.1:p.Asn393Lys
XM_017029709.1:c.1179C>G	XP_016885198.1:p.Asn393Lys
NM_001378477.3:c.1164C>G MANE Select	NP_001365406.2:p.Asn388Lys
NM_022567.3:c.1164C>G	NP_072089.2:p.Asn388Lys