Canonical Allele Identifier: CA412992864
Gene: NYX HGNC NCBI

Linked Data

gnomAD v4: X-41474612-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474612G>T , CM000685.2:g.41474612G>T GRCh38
NC_000023.10:g.41333865G>T , CM000685.1:g.41333865G>T GRCh37
NC_000023.9:g.41218809G>T NCBI36
NG_009112.1:g.32153G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1144G>T ENSP00000340328.3:p.Val382Leu
ENST00000378220.3:c.1144G>T MANE Select ENSP00000367465.2:p.Val382Leu
ENST00000378220.2:c.1159G>T ENSP00000367465.1:p.Val387Leu
ENST00000342595.2:c.1159G>T ENSP00000340328.2:p.Val387Leu
ENST00000378220.1:c.1159G>T ENSP00000367465.1:p.Val387Leu
NM_022567.2:c.1159G>T NP_072089.1:p.Val387Leu
XM_005272632.2:c.1159G>T XP_005272689.1:p.Val387Leu
XM_017029709.1:c.1159G>T XP_016885198.1:p.Val387Leu
NM_001378477.3:c.1144G>T MANE Select NP_001365406.2:p.Val382Leu
NM_022567.3:c.1144G>T NP_072089.2:p.Val382Leu