Canonical Allele Identifier: CA10389921
Gene: NYX HGNC NCBI

Linked Data

ClinVar Variation Id: 1019168
ClinVar RCV Id: RCV001318566
dbSNP Id: rs34169326
gnomAD v2: X-41333923-C-T
gnomAD v4: X-41474670-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474670C>T , CM000685.2:g.41474670C>T GRCh38
NC_000023.10:g.41333923C>T , CM000685.1:g.41333923C>T GRCh37
NC_000023.9:g.41218867C>T NCBI36
NG_009112.1:g.32211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1202C>T ENSP00000340328.3:p.Ala401Val
ENST00000378220.3:c.1202C>T MANE Select ENSP00000367465.2:p.Ala401Val
ENST00000378220.2:c.1217C>T ENSP00000367465.1:p.Ala406Val
ENST00000342595.2:c.1217C>T ENSP00000340328.2:p.Ala406Val
ENST00000378220.1:c.1217C>T ENSP00000367465.1:p.Ala406Val
NM_022567.2:c.1217C>T NP_072089.1:p.Ala406Val
XM_005272632.2:c.1217C>T XP_005272689.1:p.Ala406Val
XM_017029709.1:c.1217C>T XP_016885198.1:p.Ala406Val
NM_001378477.3:c.1202C>T MANE Select NP_001365406.2:p.Ala401Val
NM_022567.3:c.1202C>T NP_072089.2:p.Ala401Val