Canonical Allele Identifier: CA10389914

Gene: NYX

Linked Data

• dbSNP Id: rs749478506
• ExAC: X:41333860 T / A
• gnomAD v2: X-41333860-T-A
• gnomAD v3: X-41474607-T-A
• gnomAD v4: X-41474607-T-A
• MyVariant Identifiers: chrX:g.41333860T>A (hg19) ; chrX:g.41474607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41474607T>A , CM000685.2:g.41474607T>A	GRCh38
NC_000023.10:g.41333860T>A , CM000685.1:g.41333860T>A	GRCh37
NC_000023.9:g.41218804T>A	NCBI36
NG_009112.1:g.32148T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342595.3:c.1139T>A	ENSP00000340328.3:p.Leu380His
ENST00000378220.3:c.1139T>A MANE Select	ENSP00000367465.2:p.Leu380His
ENST00000378220.2:c.1154T>A	ENSP00000367465.1:p.Leu385His
ENST00000342595.2:c.1154T>A	ENSP00000340328.2:p.Leu385His
ENST00000378220.1:c.1154T>A	ENSP00000367465.1:p.Leu385His
NM_022567.2:c.1154T>A	NP_072089.1:p.Leu385His
XM_005272632.2:c.1154T>A	XP_005272689.1:p.Leu385His
XM_017029709.1:c.1154T>A	XP_016885198.1:p.Leu385His
NM_001378477.3:c.1139T>A MANE Select	NP_001365406.2:p.Leu380His
NM_022567.3:c.1139T>A	NP_072089.2:p.Leu380His