Canonical Allele Identifier: CA7927821
Gene: XYLT1 HGNC NCBI

Linked Data

dbSNP Id: rs756419060
ExAC: 16:17232293 G / A
gnomAD v2: 16-17232293-G-A
gnomAD v4: 16-17138436-G-A
MyVariant Identifiers: chr16:g.17232293G>A (hg19) chr16:g.17138436G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138436G>A , CM000678.2:g.17138436G>A GRCh38
NC_000016.9:g.17232293G>A , CM000678.1:g.17232293G>A GRCh37
NC_000016.8:g.17139794G>A NCBI36
NG_015843.1:g.337446C>T
NG_015843.2:g.337446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1683C>T MANE Select ENSP00000261381.6:p.Cys561=
ENST00000261381.6:c.1683C>T ENSP00000261381.6:p.Cys561=
NM_022166.3:c.1683C>T NP_071449.1:p.Cys561=
XM_011522574.1:c.1683C>T XP_011520876.1:p.Cys561=
XR_933141.1:n.369G>A
NR_135179.1:n.341G>A
XM_017023539.2:c.1683C>T XP_016879028.1:p.Cys561=
XM_017023540.2:c.1683C>T XP_016879029.1:p.Cys561=
NM_022166.4:c.1683C>T MANE Select NP_071449.1:p.Cys561=
Search 100 bp 5'
Search 100 bp 3'