Canonical Allele Identifier: CA10454933

Gene: NEXMIF

Linked Data

• dbSNP Id: rs765822707
• ExAC: X:73960847 C / A
• gnomAD v2: X-73960847-C-A
• gnomAD v4: X-74741012-C-A
• MyVariant Identifiers: chrX:g.73960847C>A (hg19) ; chrX:g.74741012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74741012C>A , CM000685.2:g.74741012C>A	GRCh38
NC_000023.10:g.73960847C>A , CM000685.1:g.73960847C>A	GRCh37
NC_000023.9:g.73877572C>A	NCBI36
NG_027726.1:g.189441G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3545G>T MANE Select	ENSP00000055682.5:p.Ser1182Ile
ENST00000616200.2:c.3545G>T	ENSP00000480284.1:p.Ser1182Ile
ENST00000642681.2:c.3545G>T	ENSP00000495800.1:p.Ser1182Ile
ENST00000055682.10:c.3545G>T	ENSP00000055682.5:p.Ser1182Ile
ENST00000616200.1:c.3545G>T	ENSP00000480284.1:p.Ser1182Ile
NM_001008537.2:c.3545G>T	NP_001008537.1:p.Ser1182Ile
XM_011530935.1:c.3545G>T	XP_011529237.1:p.Ser1182Ile
NM_001008537.3:c.3545G>T MANE Select	NP_001008537.1:p.Ser1182Ile