Canonical Allele Identifier: CA10603638

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 280509
• ClinVar RCV Id: RCV000505390 ; RCV000361637 ; RCV004021068
• dbSNP Id: rs886041701
• gnomAD v4: X-74743116-G-A
• COSMIC: COSM245265
• MyVariant Identifiers: chrX:g.73962951G>A (hg19) ; chrX:g.74743116G>A (hg38)
• PubMed: PMID:15466006 ; PMID:19524067 ; PMID:22531377 ; PMID:23352160 ; PMID:23615299 ; PMID:24307393 ; PMID:25900396 ; PMID:26290131 ; PMID:26576034 ; PMID:27358180 ; PMID:27568816

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74743116G>A , CM000685.2:g.74743116G>A	GRCh38
NC_000023.10:g.73962951G>A , CM000685.1:g.73962951G>A	GRCh37
NC_000023.9:g.73879676G>A	NCBI36
NG_027726.1:g.187337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.1441C>T MANE Select	ENSP00000055682.5:p.Arg481Ter
ENST00000616200.2:c.1441C>T	ENSP00000480284.1:p.Arg481Ter
ENST00000642681.2:c.1441C>T	ENSP00000495800.1:p.Arg481Ter
ENST00000055682.10:c.1441C>T	ENSP00000055682.5:p.Arg481Ter
ENST00000616200.1:c.1441C>T	ENSP00000480284.1:p.Arg481Ter
NM_001008537.2:c.1441C>T	NP_001008537.1:p.Arg481Ter
XM_011530935.1:c.1441C>T	XP_011529237.1:p.Arg481Ter
NM_001008537.3:c.1441C>T MANE Select	NP_001008537.1:p.Arg481Ter