Canonical Allele Identifier: CA412974159
Gene: XK HGNC NCBI

Linked Data

dbSNP Id: rs1414584416
gnomAD v2: X-37587098-A-G
gnomAD v3: X-37727845-A-G
gnomAD v4: X-37727845-A-G
MyVariant Identifiers: chrX:g.37587098A>G (hg19) chrX:g.37727845A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727845A>G , CM000685.2:g.37727845A>G GRCh38
NC_000023.10:g.37587098A>G , CM000685.1:g.37587098A>G GRCh37
NC_000023.9:g.37472037A>G NCBI36
NG_007473.1:g.46986A>G
NG_007473.3:g.46966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378616.5:c.718A>G MANE Select ENSP00000367879.3:p.Ile240Val
ENST00000378616.3:c.718A>G ENSP00000367879.3:p.Ile240Val
ENST00000465127.1:c.171+301845A>G ENSP00000417050.1:n.171+301845A>G
NM_021083.2:c.718A>G NP_066569.1:p.Ile240Val
NM_021083.4:c.718A>G MANE Select NP_066569.1:p.Ile240Val
Search 100 bp 5'
Search 100 bp 3'