Canonical Allele Identifier: CA412992994

Gene: NYX

Linked Data

• dbSNP Id: rs1387621161
• gnomAD v4: X-41474643-C-T
• MyVariant Identifiers: chrX:g.41333896C>T (hg19) ; chrX:g.41474643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.41474643C>T , CM000685.2:g.41474643C>T	GRCh38
NC_000023.10:g.41333896C>T , CM000685.1:g.41333896C>T	GRCh37
NC_000023.9:g.41218840C>T	NCBI36
NG_009112.1:g.32184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342595.3:c.1175C>T	ENSP00000340328.3:p.Ser392Phe
ENST00000378220.3:c.1175C>T MANE Select	ENSP00000367465.2:p.Ser392Phe
ENST00000378220.2:c.1190C>T	ENSP00000367465.1:p.Ser397Phe
ENST00000342595.2:c.1190C>T	ENSP00000340328.2:p.Ser397Phe
ENST00000378220.1:c.1190C>T	ENSP00000367465.1:p.Ser397Phe
NM_022567.2:c.1190C>T	NP_072089.1:p.Ser397Phe
XM_005272632.2:c.1190C>T	XP_005272689.1:p.Ser397Phe
XM_017029709.1:c.1190C>T	XP_016885198.1:p.Ser397Phe
NM_001378477.3:c.1175C>T MANE Select	NP_001365406.2:p.Ser392Phe
NM_022567.3:c.1175C>T	NP_072089.2:p.Ser392Phe