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ClinGen Allele Registry
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Canonical Allele Identifier:
CA7927538
Community Standard Title: NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala)
Gene: XYLT1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.17109014T>G , CM000678.2:g.17109014T>G
GRCh38
NC_000016.9:g.17202871T>G , CM000678.1:g.17202871T>G
GRCh37
NC_000016.8:g.17110372T>G
NCBI36
NG_015843.1:g.366868A>C
NG_015843.2:g.366868A>C
Transcript Alleles
HGVS
Amino-acid Change
NM_022166.4:c.2561A>C
MANE Select
NP_071449.1:p.Glu854Ala
ENST00000261381.7:c.2561A>C
MANE Select
ENSP00000261381.6:p.Glu854Ala
NM_022166.3:c.2561A>C
NP_071449.1:p.Glu854Ala
ENST00000261381.6:c.2561A>C
ENSP00000261381.6:p.Glu854Ala
XM_017023540.2:c.2605A>C
XP_016879029.1:p.Arg869=
Search 100 bp 5'
Search 100 bp 3'