Canonical Allele Identifier: CA394875313
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470773
dbSNP Id: rs2141515545

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138450G>A , CM000678.2:g.17138450G>A GRCh38
NC_000016.9:g.17232307G>A , CM000678.1:g.17232307G>A GRCh37
NC_000016.8:g.17139808G>A NCBI36
NG_015843.1:g.337432C>T
NG_015843.2:g.337432C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1669C>T MANE Select ENSP00000261381.6:p.Arg557Cys
ENST00000261381.6:c.1669C>T ENSP00000261381.6:p.Arg557Cys
NM_022166.3:c.1669C>T NP_071449.1:p.Arg557Cys
XM_011522574.1:c.1669C>T XP_011520876.1:p.Arg557Cys
XR_933141.1:n.383G>A
NR_135179.1:n.355G>A
XM_017023539.2:c.1669C>T XP_016879028.1:p.Arg557Cys
XM_017023540.2:c.1669C>T XP_016879029.1:p.Arg557Cys
NM_022166.4:c.1669C>T MANE Select NP_071449.1:p.Arg557Cys