Canonical Allele Identifier: CA412974097
Gene: XK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.37727829G>T , CM000685.2:g.37727829G>T GRCh38
NC_000023.10:g.37587082G>T , CM000685.1:g.37587082G>T GRCh37
NC_000023.9:g.37472021G>T NCBI36
NG_007473.1:g.46970G>T
NG_007473.3:g.46950G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378616.5:c.702G>T MANE Select ENSP00000367879.3:p.Lys234Asn
ENST00000378616.3:c.702G>T ENSP00000367879.3:p.Lys234Asn
ENST00000465127.1:c.171+301829G>T ENSP00000417050.1:n.171+301829G>T
NM_021083.2:c.702G>T NP_066569.1:p.Lys234Asn
NM_021083.4:c.702G>T MANE Select NP_066569.1:p.Lys234Asn