Canonical Allele Identifier: CA7927803
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 959193
ClinVar RCV Id: RCV001232492
dbSNP Id: rs770094750
ExAC: 16:17232229 C / T
gnomAD v2: 16-17232229-C-T
gnomAD v3: 16-17138372-C-T
gnomAD v4: 16-17138372-C-T
MyVariant Identifiers: chr16:g.17232229C>T (hg19) chr16:g.17138372C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138372C>T , CM000678.2:g.17138372C>T GRCh38
NC_000016.9:g.17232229C>T , CM000678.1:g.17232229C>T GRCh37
NC_000016.8:g.17139730C>T NCBI36
NG_015843.1:g.337510G>A
NG_015843.2:g.337510G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1747G>A MANE Select ENSP00000261381.6:p.Asp583Asn
ENST00000261381.6:c.1747G>A ENSP00000261381.6:p.Asp583Asn
NM_022166.3:c.1747G>A NP_071449.1:p.Asp583Asn
XM_011522574.1:c.1747G>A XP_011520876.1:p.Asp583Asn
XR_933141.1:n.305C>T
NR_135179.1:n.277C>T
XM_017023539.2:c.1747G>A XP_016879028.1:p.Asp583Asn
XM_017023540.2:c.1747G>A XP_016879029.1:p.Asp583Asn
NM_022166.4:c.1747G>A MANE Select NP_071449.1:p.Asp583Asn
Search 100 bp 5'
Search 100 bp 3'