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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA412974097
Gene: XK
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.37587082G>T (hg19)
chrX:g.37727829G>T (hg38)
JSON-LD
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
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