Canonical Allele Identifier: CA412974469
Gene: XK HGNC NCBI

Linked Data

ClinVar Variation Id: 2285249
ClinVar RCV Id: RCV002858888
dbSNP Id: rs1556450408
gnomAD v2: X-37587180-T-C
gnomAD v4: X-37727927-T-C
MyVariant Identifiers: chrX:g.37587180T>C (hg19) chrX:g.37727927T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727927T>C , CM000685.2:g.37727927T>C GRCh38
NC_000023.10:g.37587180T>C , CM000685.1:g.37587180T>C GRCh37
NC_000023.9:g.37472119T>C NCBI36
NG_007473.1:g.47068T>C
NG_007473.3:g.47048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.800T>C MANE Select ENSP00000367879.3:p.Ile267Thr
ENST00000378616.3:c.800T>C ENSP00000367879.3:p.Ile267Thr
ENST00000465127.1:c.171+301927T>C ENSP00000417050.1:n.171+301927T>C
NM_021083.2:c.800T>C NP_066569.1:p.Ile267Thr
NM_021083.4:c.800T>C MANE Select NP_066569.1:p.Ile267Thr
Search 100 bp 5'
Search 100 bp 3'