Canonical Allele Identifier: CA7927816
Gene: XYLT1 HGNC NCBI

Linked Data

dbSNP Id: rs765949525
ExAC: 16:17232284 C / T
gnomAD v2: 16-17232284-C-T
gnomAD v4: 16-17138427-C-T
MyVariant Identifiers: chr16:g.17232284C>T (hg19) chr16:g.17138427C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138427C>T , CM000678.2:g.17138427C>T GRCh38
NC_000016.9:g.17232284C>T , CM000678.1:g.17232284C>T GRCh37
NC_000016.8:g.17139785C>T NCBI36
NG_015843.1:g.337455G>A
NG_015843.2:g.337455G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1692G>A MANE Select ENSP00000261381.6:p.Gln564=
ENST00000261381.6:c.1692G>A ENSP00000261381.6:p.Gln564=
NM_022166.3:c.1692G>A NP_071449.1:p.Gln564=
XM_011522574.1:c.1692G>A XP_011520876.1:p.Gln564=
XR_933141.1:n.360C>T
NR_135179.1:n.332C>T
XM_017023539.2:c.1692G>A XP_016879028.1:p.Gln564=
XM_017023540.2:c.1692G>A XP_016879029.1:p.Gln564=
NM_022166.4:c.1692G>A MANE Select NP_071449.1:p.Gln564=
Search 100 bp 5'
Search 100 bp 3'