Canonical Allele Identifier: CA10389948
Community Standard Title: NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)
Gene: NYX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41474847G>T , CM000685.2:g.41474847G>T GRCh38
NC_000023.10:g.41334100G>T , CM000685.1:g.41334100G>T GRCh37
NC_000023.9:g.41219044G>T NCBI36
NG_009112.1:g.32388G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001378477.3:c.1379G>T MANE Select NP_001365406.2:p.Cys460Phe
ENST00000378220.3:c.1379G>T MANE Select ENSP00000367465.2:p.Cys460Phe
NM_022567.2:c.1394G>T NP_072089.1:p.Cys465Phe
NM_022567.3:c.1379G>T NP_072089.2:p.Cys460Phe
ENST00000342595.2:c.1394G>T ENSP00000340328.2:p.Cys465Phe
ENST00000342595.3:c.1379G>T ENSP00000340328.3:p.Cys460Phe
ENST00000378220.1:c.1394G>T ENSP00000367465.1:p.Cys465Phe
ENST00000378220.2:c.1394G>T ENSP00000367465.1:p.Cys465Phe
XM_005272632.2:c.1394G>T XP_005272689.1:p.Cys465Phe
XM_017029709.1:c.1394G>T XP_016885198.1:p.Cys465Phe