Canonical Allele Identifier: CA331301713
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 1918907
ClinVar RCV Id: RCV002617378
dbSNP Id: rs978091249
gnomAD v2: X-73960743-G-A
gnomAD v3: X-74740908-G-A
gnomAD v4: X-74740908-G-A
COSMIC: COSM5367316
MyVariant Identifiers: chrX:g.73960743G>A (hg19) chrX:g.74740908G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740908G>A , CM000685.2:g.74740908G>A GRCh38
NC_000023.10:g.73960743G>A , CM000685.1:g.73960743G>A GRCh37
NC_000023.9:g.73877468G>A NCBI36
NG_027726.1:g.189545C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3649C>T MANE Select ENSP00000055682.5:p.Arg1217Cys
ENST00000616200.2:c.3649C>T ENSP00000480284.1:p.Arg1217Cys
ENST00000642681.2:c.3649C>T ENSP00000495800.1:p.Arg1217Cys
ENST00000055682.10:c.3649C>T ENSP00000055682.5:p.Arg1217Cys
ENST00000616200.1:c.3649C>T ENSP00000480284.1:p.Arg1217Cys
NM_001008537.2:c.3649C>T NP_001008537.1:p.Arg1217Cys
XM_011530935.1:c.3649C>T XP_011529237.1:p.Arg1217Cys
NM_001008537.3:c.3649C>T MANE Select NP_001008537.1:p.Arg1217Cys
Search 100 bp 5'
Search 100 bp 3'