Canonical Allele Identifier: CA412992932
Gene: NYX HGNC NCBI

Linked Data

gnomAD v4: X-41474628-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474628T>C , CM000685.2:g.41474628T>C GRCh38
NC_000023.10:g.41333881T>C , CM000685.1:g.41333881T>C GRCh37
NC_000023.9:g.41218825T>C NCBI36
NG_009112.1:g.32169T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.1160T>C ENSP00000340328.3:p.Leu387Pro
ENST00000378220.3:c.1160T>C MANE Select ENSP00000367465.2:p.Leu387Pro
ENST00000378220.2:c.1175T>C ENSP00000367465.1:p.Leu392Pro
ENST00000342595.2:c.1175T>C ENSP00000340328.2:p.Leu392Pro
ENST00000378220.1:c.1175T>C ENSP00000367465.1:p.Leu392Pro
NM_022567.2:c.1175T>C NP_072089.1:p.Leu392Pro
XM_005272632.2:c.1175T>C XP_005272689.1:p.Leu392Pro
XM_017029709.1:c.1175T>C XP_016885198.1:p.Leu392Pro
NM_001378477.3:c.1160T>C MANE Select NP_001365406.2:p.Leu387Pro
NM_022567.3:c.1160T>C NP_072089.2:p.Leu387Pro