Canonical Allele Identifier: CA255880
Gene: NYX HGNC NCBI

Linked Data

ClinVar Variation Id: 11425
ClinVar RCV Id: RCV000012178
dbSNP Id: rs104894911
gnomAD v4: X-41473755-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41473755T>C , CM000685.2:g.41473755T>C GRCh38
NC_000023.10:g.41333008T>C , CM000685.1:g.41333008T>C GRCh37
NC_000023.9:g.41217952T>C NCBI36
NG_009112.1:g.31296T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342595.3:c.287T>C ENSP00000340328.3:p.Ile96Thr
ENST00000378220.3:c.287T>C MANE Select ENSP00000367465.2:p.Ile96Thr
ENST00000378220.2:c.302T>C ENSP00000367465.1:p.Ile101Thr
ENST00000342595.2:c.302T>C ENSP00000340328.2:p.Ile101Thr
ENST00000378220.1:c.302T>C ENSP00000367465.1:p.Ile101Thr
NM_022567.2:c.302T>C NP_072089.1:p.Ile101Thr
XM_005272632.2:c.302T>C XP_005272689.1:p.Ile101Thr
XM_017029709.1:c.302T>C XP_016885198.1:p.Ile101Thr
NM_001378477.3:c.287T>C MANE Select NP_001365406.2:p.Ile96Thr
NM_022567.3:c.287T>C NP_072089.2:p.Ile96Thr