Canonical Allele Identifier: CA412990490
Gene: NYX HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.41473935T>C
GRCh37 chrX:g.41333188T>C
Revel Score:
ENST00000342595 0.886
ENST00000378220 (MANE Select) 0.886
ClinVar RCV:
RCV001808086
ClinVar Variation:
1333398
dbSNP:
1245924306
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.41473935T>C , CM000685.2:g.41473935T>C GRCh38
NC_000023.10:g.41333188T>C , CM000685.1:g.41333188T>C GRCh37
NC_000023.9:g.41218132T>C NCBI36
NG_009112.1:g.31476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342595.3:c.467T>C ENSP00000340328.3:p.Leu156Pro
ENST00000378220.3:c.467T>C MANE Select ENSP00000367465.2:p.Leu156Pro
ENST00000378220.2:c.482T>C ENSP00000367465.1:p.Leu161Pro
ENST00000342595.2:c.482T>C ENSP00000340328.2:p.Leu161Pro
ENST00000378220.1:c.482T>C ENSP00000367465.1:p.Leu161Pro
NM_022567.2:c.482T>C NP_072089.1:p.Leu161Pro
XM_005272632.2:c.482T>C XP_005272689.1:p.Leu161Pro
XM_017029709.1:c.482T>C XP_016885198.1:p.Leu161Pro
NM_001378477.3:c.467T>C MANE Select NP_001365406.2:p.Leu156Pro
NM_022567.3:c.467T>C NP_072089.2:p.Leu156Pro
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