Canonical Allele Identifier: CA412993018
Gene: NYX HGNC NCBI

Linked Data

dbSNP Id: rs1382737446
gnomAD v2: X-41333902-C-G
gnomAD v3: X-41474649-C-G
gnomAD v4: X-41474649-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474649C>G , CM000685.2:g.41474649C>G GRCh38
NC_000023.10:g.41333902C>G , CM000685.1:g.41333902C>G GRCh37
NC_000023.9:g.41218846C>G NCBI36
NG_009112.1:g.32190C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1181C>G ENSP00000340328.3:p.Pro394Arg
ENST00000378220.3:c.1181C>G MANE Select ENSP00000367465.2:p.Pro394Arg
ENST00000378220.2:c.1196C>G ENSP00000367465.1:p.Pro399Arg
ENST00000342595.2:c.1196C>G ENSP00000340328.2:p.Pro399Arg
ENST00000378220.1:c.1196C>G ENSP00000367465.1:p.Pro399Arg
NM_022567.2:c.1196C>G NP_072089.1:p.Pro399Arg
XM_005272632.2:c.1196C>G XP_005272689.1:p.Pro399Arg
XM_017029709.1:c.1196C>G XP_016885198.1:p.Pro399Arg
NM_001378477.3:c.1181C>G MANE Select NP_001365406.2:p.Pro394Arg
NM_022567.3:c.1181C>G NP_072089.2:p.Pro394Arg