Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA413664713

Gene: NEXMIF HGNC NCBI

Linked Data

ClinVar Variation Id: 1509072

ClinVar RCV Id: RCV002017631

dbSNP Id: rs2147439186

MyVariant Identifiers: chrX:g.73960587C>T (hg19) chrX:g.74740752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740752C>T , CM000685.2:g.74740752C>T	GRCh38
NC_000023.10:g.73960587C>T , CM000685.1:g.73960587C>T	GRCh37
NC_000023.9:g.73877312C>T	NCBI36
NG_027726.1:g.189701G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3805G>A MANE Select	ENSP00000055682.5:p.Ala1269Thr
ENST00000616200.2:c.3805G>A	ENSP00000480284.1:p.Ala1269Thr
ENST00000642681.2:c.3805G>A	ENSP00000495800.1:p.Ala1269Thr
ENST00000055682.10:c.3805G>A	ENSP00000055682.5:p.Ala1269Thr
ENST00000616200.1:c.3805G>A	ENSP00000480284.1:p.Ala1269Thr
NM_001008537.2:c.3805G>A	NP_001008537.1:p.Ala1269Thr
XM_011530935.1:c.3805G>A	XP_011529237.1:p.Ala1269Thr
NM_001008537.3:c.3805G>A MANE Select	NP_001008537.1:p.Ala1269Thr