Canonical Allele Identifier: CA516366391
Gene: NYX HGNC NCBI

Linked Data

ClinVar Variation Id: 1116958
ClinVar RCV Id: RCV001445523
dbSNP Id: rs1201699098
gnomAD v2: X-41333954-C-A
gnomAD v3: X-41474701-C-A
gnomAD v4: X-41474701-C-A
MyVariant Identifiers: chrX:g.41333954C>A (hg19) chrX:g.41474701C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474701C>A , CM000685.2:g.41474701C>A GRCh38
NC_000023.10:g.41333954C>A , CM000685.1:g.41333954C>A GRCh37
NC_000023.9:g.41218898C>A NCBI36
NG_009112.1:g.32242C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1233C>A ENSP00000340328.3:p.Leu411=
ENST00000378220.3:c.1233C>A MANE Select ENSP00000367465.2:p.Leu411=
ENST00000378220.2:c.1248C>A ENSP00000367465.1:p.Leu416=
ENST00000342595.2:c.1248C>A ENSP00000340328.2:p.Leu416=
ENST00000378220.1:c.1248C>A ENSP00000367465.1:p.Leu416=
NM_022567.2:c.1248C>A NP_072089.1:p.Leu416=
XM_005272632.2:c.1248C>A XP_005272689.1:p.Leu416=
XM_017029709.1:c.1248C>A XP_016885198.1:p.Leu416=
NM_001378477.3:c.1233C>A MANE Select NP_001365406.2:p.Leu411=
NM_022567.3:c.1233C>A NP_072089.2:p.Leu411=
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