Canonical Allele Identifier: CA10454917

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 474071
• ClinVar RCV Id: RCV002461325 ; RCV002497186
• dbSNP Id: rs61731613
• ExAC: X:73960683 T / A
• gnomAD v2: X-73960683-T-A
• gnomAD v3: X-74740848-T-A
• gnomAD v4: X-74740848-T-A
• MyVariant Identifiers: chrX:g.73960683T>A (hg19) ; chrX:g.74740848T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740848T>A , CM000685.2:g.74740848T>A	GRCh38
NC_000023.10:g.73960683T>A , CM000685.1:g.73960683T>A	GRCh37
NC_000023.9:g.73877408T>A	NCBI36
NG_027726.1:g.189605A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3709A>T MANE Select	ENSP00000055682.5:p.Met1237Leu
ENST00000616200.2:c.3709A>T	ENSP00000480284.1:p.Met1237Leu
ENST00000642681.2:c.3709A>T	ENSP00000495800.1:p.Met1237Leu
ENST00000055682.10:c.3709A>T	ENSP00000055682.5:p.Met1237Leu
ENST00000616200.1:c.3709A>T	ENSP00000480284.1:p.Met1237Leu
NM_001008537.2:c.3709A>T	NP_001008537.1:p.Met1237Leu
XM_011530935.1:c.3709A>T	XP_011529237.1:p.Met1237Leu
NM_001008537.3:c.3709A>T MANE Select	NP_001008537.1:p.Met1237Leu