Canonical Allele Identifier: CA413665434
Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 2785644
ClinVar RCV Id: RCV003664492
dbSNP Id: rs1258616195
gnomAD v2: X-73960832-A-C
gnomAD v4: X-74740997-A-C
MyVariant Identifiers: chrX:g.73960832A>C (hg19) chrX:g.74740997A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740997A>C , CM000685.2:g.74740997A>C GRCh38
NC_000023.10:g.73960832A>C , CM000685.1:g.73960832A>C GRCh37
NC_000023.9:g.73877557A>C NCBI36
NG_027726.1:g.189456T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000055682.12:c.3560T>G MANE Select ENSP00000055682.5:p.Met1187Arg
ENST00000616200.2:c.3560T>G ENSP00000480284.1:p.Met1187Arg
ENST00000642681.2:c.3560T>G ENSP00000495800.1:p.Met1187Arg
ENST00000055682.10:c.3560T>G ENSP00000055682.5:p.Met1187Arg
ENST00000616200.1:c.3560T>G ENSP00000480284.1:p.Met1187Arg
NM_001008537.2:c.3560T>G NP_001008537.1:p.Met1187Arg
XM_011530935.1:c.3560T>G XP_011529237.1:p.Met1187Arg
NM_001008537.3:c.3560T>G MANE Select NP_001008537.1:p.Met1187Arg
Search 100 bp 5'
Search 100 bp 3'