Canonical Allele Identifier: CA7927711
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2412085
ClinVar RCV Id: RCV002784847
dbSNP Id: rs769075682

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134508C>G , CM000678.2:g.17134508C>G GRCh38
NC_000016.9:g.17228365C>G , CM000678.1:g.17228365C>G GRCh37
NC_000016.8:g.17135866C>G NCBI36
NG_015843.1:g.341374G>C
NG_015843.2:g.341374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1992G>C MANE Select ENSP00000261381.6:p.Glu664Asp
ENST00000261381.6:c.1992G>C ENSP00000261381.6:p.Glu664Asp
NM_022166.3:c.1992G>C NP_071449.1:p.Glu664Asp
XM_011522574.1:c.1992G>C XP_011520876.1:p.Glu664Asp
XR_933140.1:n.40C>G
XR_933141.1:n.33C>G
XR_933143.1:n.40C>G
NR_135179.1:n.5C>G
XM_017023539.2:c.1992G>C XP_016879028.1:p.Glu664Asp
XM_017023540.2:c.1992G>C XP_016879029.1:p.Glu664Asp
NM_022166.4:c.1992G>C MANE Select NP_071449.1:p.Glu664Asp