Canonical Allele Identifier: CA205233
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 211265
ClinVar RCV Id: RCV000192419 RCV001512983
dbSNP Id: rs757442837
ExAC: X:73960755 C / T
gnomAD v2: X-73960755-C-T
gnomAD v3: X-74740920-C-T
gnomAD v4: X-74740920-C-T
MyVariant Identifiers: chrX:g.73960755C>T (hg19) chrX:g.74740920C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740920C>T , CM000685.2:g.74740920C>T GRCh38
NC_000023.10:g.73960755C>T , CM000685.1:g.73960755C>T GRCh37
NC_000023.9:g.73877480C>T NCBI36
NG_027726.1:g.189533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3637G>A MANE Select ENSP00000055682.5:p.Gly1213Ser
ENST00000616200.2:c.3637G>A ENSP00000480284.1:p.Gly1213Ser
ENST00000642681.2:c.3637G>A ENSP00000495800.1:p.Gly1213Ser
ENST00000055682.10:c.3637G>A ENSP00000055682.5:p.Gly1213Ser
ENST00000616200.1:c.3637G>A ENSP00000480284.1:p.Gly1213Ser
NM_001008537.2:c.3637G>A NP_001008537.1:p.Gly1213Ser
XM_011530935.1:c.3637G>A XP_011529237.1:p.Gly1213Ser
NM_001008537.3:c.3637G>A MANE Select NP_001008537.1:p.Gly1213Ser
Search 100 bp 5'
Search 100 bp 3'