Canonical Allele Identifier: CA7927586
Gene: XYLT1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.17117818G>A
GRCh37 chr16:g.17211675G>A
gnomAD v2:
16:17211675 G / A
gnomAD v3:
16:17117818 G / A
gnomAD v4:
chr16-17117818-G-A
Joint Max Group AF 0.00009524 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00009203 (NFE)
ClinVar RCV:
RCV002905020
ClinVar Variation:
2058337
dbSNP:
139558627
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17117818G>A , CM000678.2:g.17117818G>A GRCh38
NC_000016.9:g.17211675G>A , CM000678.1:g.17211675G>A GRCh37
NC_000016.8:g.17119176G>A NCBI36
NG_015843.1:g.358064C>T
NG_015843.2:g.358064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.2385C>T MANE Select ENSP00000261381.6:p.Tyr795=
ENST00000261381.6:c.2385C>T ENSP00000261381.6:p.Tyr795=
NM_022166.3:c.2385C>T NP_071449.1:p.Tyr795=
XM_017023539.2:c.2385C>T XP_016879028.1:p.Tyr795=
XM_017023540.2:c.2385C>T XP_016879029.1:p.Tyr795=
NM_022166.4:c.2385C>T MANE Select NP_071449.1:p.Tyr795=
Search 100 bp 5'
Search 100 bp 3'