Canonical Allele Identifier: CA10454922
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 2102485
ClinVar RCV Id: RCV003037704
dbSNP Id: rs747053627
ExAC: X:73960744 G / A
gnomAD v2: X-73960744-G-A
gnomAD v4: X-74740909-G-A
MyVariant Identifiers: chrX:g.73960744G>A (hg19) chrX:g.74740909G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740909G>A , CM000685.2:g.74740909G>A GRCh38
NC_000023.10:g.73960744G>A , CM000685.1:g.73960744G>A GRCh37
NC_000023.9:g.73877469G>A NCBI36
NG_027726.1:g.189544C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3648C>T MANE Select ENSP00000055682.5:p.Ser1216=
ENST00000616200.2:c.3648C>T ENSP00000480284.1:p.Ser1216=
ENST00000642681.2:c.3648C>T ENSP00000495800.1:p.Ser1216=
ENST00000055682.10:c.3648C>T ENSP00000055682.5:p.Ser1216=
ENST00000616200.1:c.3648C>T ENSP00000480284.1:p.Ser1216=
NM_001008537.2:c.3648C>T NP_001008537.1:p.Ser1216=
XM_011530935.1:c.3648C>T XP_011529237.1:p.Ser1216=
NM_001008537.3:c.3648C>T MANE Select NP_001008537.1:p.Ser1216=
Search 100 bp 5'
Search 100 bp 3'