Canonical Allele Identifier: CA331301777

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 541127
• ClinVar RCV Id: RCV000651331
• dbSNP Id: rs752183295
• gnomAD v4: X-74742768-T-C
• MyVariant Identifiers: chrX:g.73962603T>C (hg19) ; chrX:g.74742768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74742768T>C , CM000685.2:g.74742768T>C	GRCh38
NC_000023.10:g.73962603T>C , CM000685.1:g.73962603T>C	GRCh37
NC_000023.9:g.73879328T>C	NCBI36
NG_027726.1:g.187685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000055682.12:c.1789A>G MANE Select	ENSP00000055682.5:p.Thr597Ala
ENST00000616200.2:c.1789A>G	ENSP00000480284.1:p.Thr597Ala
ENST00000642681.2:c.1789A>G	ENSP00000495800.1:p.Thr597Ala
ENST00000055682.10:c.1789A>G	ENSP00000055682.5:p.Thr597Ala
ENST00000616200.1:c.1789A>G	ENSP00000480284.1:p.Thr597Ala
NM_001008537.2:c.1789A>G	NP_001008537.1:p.Thr597Ala
XM_011530935.1:c.1789A>G	XP_011529237.1:p.Thr597Ala
NM_001008537.3:c.1789A>G MANE Select	NP_001008537.1:p.Thr597Ala