Canonical Allele Identifier: CA7927823
Gene: XYLT1 HGNC NCBI

Linked Data

dbSNP Id: rs749400547
ExAC: 16:17232306 C / T
gnomAD v2: 16-17232306-C-T
gnomAD v3: 16-17138449-C-T
gnomAD v4: 16-17138449-C-T
MyVariant Identifiers: chr16:g.17232306C>T (hg19) chr16:g.17232306_17232319delinsTGATTCCAGTTGGT (hg19) chr16:g.17138449C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138449C>T , CM000678.2:g.17138449C>T GRCh38
NC_000016.9:g.17232306C>T , CM000678.1:g.17232306C>T GRCh37
NC_000016.8:g.17139807C>T NCBI36
NG_015843.1:g.337433G>A
NG_015843.2:g.337433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1670G>A MANE Select ENSP00000261381.6:p.Arg557His
ENST00000261381.6:c.1670G>A ENSP00000261381.6:p.Arg557His
NM_022166.3:c.1670G>A NP_071449.1:p.Arg557His
XM_011522574.1:c.1670G>A XP_011520876.1:p.Arg557His
XR_933141.1:n.382C>T
NR_135179.1:n.354C>T
XM_017023539.2:c.1670G>A XP_016879028.1:p.Arg557His
XM_017023540.2:c.1670G>A XP_016879029.1:p.Arg557His
NM_022166.4:c.1670G>A MANE Select NP_071449.1:p.Arg557His
Search 100 bp 5'
Search 100 bp 3'