Canonical Allele Identifier: CA10389918

Gene: NYX

Linked Data

• ClinVar Variation Id: 368270
• ClinVar RCV Id: RCV000266696 ; RCV001699409 ; RCV001520041 ; RCV003902451
• dbSNP Id: rs189924262
• ExAC: X:41333904 G / A
• gnomAD v2: X-41333904-G-A
• gnomAD v3: X-41474651-G-A
• gnomAD v4: X-41474651-G-A
• MyVariant Identifiers: chrX:g.41333904G>A (hg19) ; chrX:g.41474651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41474651G>A , CM000685.2:g.41474651G>A	GRCh38
NC_000023.10:g.41333904G>A , CM000685.1:g.41333904G>A	GRCh37
NC_000023.9:g.41218848G>A	NCBI36
NG_009112.1:g.32192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342595.3:c.1183G>A	ENSP00000340328.3:p.Gly395Ser
ENST00000378220.3:c.1183G>A MANE Select	ENSP00000367465.2:p.Gly395Ser
ENST00000378220.2:c.1198G>A	ENSP00000367465.1:p.Gly400Ser
ENST00000342595.2:c.1198G>A	ENSP00000340328.2:p.Gly400Ser
ENST00000378220.1:c.1198G>A	ENSP00000367465.1:p.Gly400Ser
NM_022567.2:c.1198G>A	NP_072089.1:p.Gly400Ser
XM_005272632.2:c.1198G>A	XP_005272689.1:p.Gly400Ser
XM_017029709.1:c.1198G>A	XP_016885198.1:p.Gly400Ser
NM_001378477.3:c.1183G>A MANE Select	NP_001365406.2:p.Gly395Ser
NM_022567.3:c.1183G>A	NP_072089.2:p.Gly395Ser