Canonical Allele Identifier: CA10389932
Gene: NYX HGNC NCBI

Linked Data

ClinVar Variation Id: 368272
ClinVar RCV Id: RCV000358003 RCV000898611
dbSNP Id: rs776029387
ExAC: X:41333959 C / G
gnomAD v2: X-41333959-C-G
gnomAD v3: X-41474706-C-G
gnomAD v4: X-41474706-C-G
MyVariant Identifiers: chrX:g.41333959C>G (hg19) chrX:g.41474706C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474706C>G , CM000685.2:g.41474706C>G GRCh38
NC_000023.10:g.41333959C>G , CM000685.1:g.41333959C>G GRCh37
NC_000023.9:g.41218903C>G NCBI36
NG_009112.1:g.32247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1238C>G ENSP00000340328.3:p.Ser413Cys
ENST00000378220.3:c.1238C>G MANE Select ENSP00000367465.2:p.Ser413Cys
ENST00000378220.2:c.1253C>G ENSP00000367465.1:p.Ser418Cys
ENST00000342595.2:c.1253C>G ENSP00000340328.2:p.Ser418Cys
ENST00000378220.1:c.1253C>G ENSP00000367465.1:p.Ser418Cys
NM_022567.2:c.1253C>G NP_072089.1:p.Ser418Cys
XM_005272632.2:c.1253C>G XP_005272689.1:p.Ser418Cys
XM_017029709.1:c.1253C>G XP_016885198.1:p.Ser418Cys
NM_001378477.3:c.1238C>G MANE Select NP_001365406.2:p.Ser413Cys
NM_022567.3:c.1238C>G NP_072089.2:p.Ser413Cys
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