Canonical Allele Identifier: CA10454921
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 1215947
ClinVar RCV Id: RCV002463021
dbSNP Id: rs143271748
ExAC: X:73960742 C / T
gnomAD v2: X-73960742-C-T
gnomAD v3: X-74740907-C-T
gnomAD v4: X-74740907-C-T
COSMIC: COSM4851346
MyVariant Identifiers: chrX:g.73960742C>T (hg19) chrX:g.74740907C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740907C>T , CM000685.2:g.74740907C>T GRCh38
NC_000023.10:g.73960742C>T , CM000685.1:g.73960742C>T GRCh37
NC_000023.9:g.73877467C>T NCBI36
NG_027726.1:g.189546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3650G>A MANE Select ENSP00000055682.5:p.Arg1217His
ENST00000616200.2:c.3650G>A ENSP00000480284.1:p.Arg1217His
ENST00000642681.2:c.3650G>A ENSP00000495800.1:p.Arg1217His
ENST00000055682.10:c.3650G>A ENSP00000055682.5:p.Arg1217His
ENST00000616200.1:c.3650G>A ENSP00000480284.1:p.Arg1217His
NM_001008537.2:c.3650G>A NP_001008537.1:p.Arg1217His
XM_011530935.1:c.3650G>A XP_011529237.1:p.Arg1217His
NM_001008537.3:c.3650G>A MANE Select NP_001008537.1:p.Arg1217His
Search 100 bp 5'
Search 100 bp 3'