Canonical Allele Identifier: CA413664960

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 1311503
• ClinVar RCV Id: RCV001752486
• dbSNP Id: rs1602210955
• gnomAD v4: X-74740866-C-A
• MyVariant Identifiers: chrX:g.73960701C>A (hg19) ; chrX:g.74740866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740866C>A , CM000685.2:g.74740866C>A	GRCh38
NC_000023.10:g.73960701C>A , CM000685.1:g.73960701C>A	GRCh37
NC_000023.9:g.73877426C>A	NCBI36
NG_027726.1:g.189587G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3691G>T MANE Select	ENSP00000055682.5:p.Ala1231Ser
ENST00000616200.2:c.3691G>T	ENSP00000480284.1:p.Ala1231Ser
ENST00000642681.2:c.3691G>T	ENSP00000495800.1:p.Ala1231Ser
ENST00000055682.10:c.3691G>T	ENSP00000055682.5:p.Ala1231Ser
ENST00000616200.1:c.3691G>T	ENSP00000480284.1:p.Ala1231Ser
NM_001008537.2:c.3691G>T	NP_001008537.1:p.Ala1231Ser
XM_011530935.1:c.3691G>T	XP_011529237.1:p.Ala1231Ser
NM_001008537.3:c.3691G>T MANE Select	NP_001008537.1:p.Ala1231Ser