Canonical Allele Identifier: CA412992779
Gene: NYX HGNC NCBI

Linked Data

gnomAD v4: X-41474592-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474592G>T , CM000685.2:g.41474592G>T GRCh38
NC_000023.10:g.41333845G>T , CM000685.1:g.41333845G>T GRCh37
NC_000023.9:g.41218789G>T NCBI36
NG_009112.1:g.32133G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1124G>T ENSP00000340328.3:p.Arg375Leu
ENST00000378220.3:c.1124G>T MANE Select ENSP00000367465.2:p.Arg375Leu
ENST00000378220.2:c.1139G>T ENSP00000367465.1:p.Arg380Leu
ENST00000342595.2:c.1139G>T ENSP00000340328.2:p.Arg380Leu
ENST00000378220.1:c.1139G>T ENSP00000367465.1:p.Arg380Leu
NM_022567.2:c.1139G>T NP_072089.1:p.Arg380Leu
XM_005272632.2:c.1139G>T XP_005272689.1:p.Arg380Leu
XM_017029709.1:c.1139G>T XP_016885198.1:p.Arg380Leu
NM_001378477.3:c.1124G>T MANE Select NP_001365406.2:p.Arg375Leu
NM_022567.3:c.1124G>T NP_072089.2:p.Arg375Leu