Canonical Allele Identifier: CA413664727

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 2711313
• ClinVar RCV Id: RCV003552826
• dbSNP Id: rs1187662037
• gnomAD v2: X-73960593-G-T
• gnomAD v4: X-74740758-G-T
• MyVariant Identifiers: chrX:g.73960593G>T (hg19) ; chrX:g.74740758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740758G>T , CM000685.2:g.74740758G>T	GRCh38
NC_000023.10:g.73960593G>T , CM000685.1:g.73960593G>T	GRCh37
NC_000023.9:g.73877318G>T	NCBI36
NG_027726.1:g.189695C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3799C>A MANE Select	ENSP00000055682.5:p.Pro1267Thr
ENST00000616200.2:c.3799C>A	ENSP00000480284.1:p.Pro1267Thr
ENST00000642681.2:c.3799C>A	ENSP00000495800.1:p.Pro1267Thr
ENST00000055682.10:c.3799C>A	ENSP00000055682.5:p.Pro1267Thr
ENST00000616200.1:c.3799C>A	ENSP00000480284.1:p.Pro1267Thr
NM_001008537.2:c.3799C>A	NP_001008537.1:p.Pro1267Thr
XM_011530935.1:c.3799C>A	XP_011529237.1:p.Pro1267Thr
NM_001008537.3:c.3799C>A MANE Select	NP_001008537.1:p.Pro1267Thr