Canonical Allele Identifier: CA115603
Gene: XYLT1 HGNC NCBI
COSMIC:
COSM4128741 (not active)
MyVariant.info:
GRCh38 chr16:g.17470454C>A
GRCh37 chr16:g.17564311C>A
Revel Score:
ENST00000261381 (MANE Select) 0.021
gnomAD v2:
16:17564311 C / A
gnomAD v3:
16:17470454 C / A
gnomAD v4:
chr16-17470454-C-A
Joint Max Group AF 0.03027325 (NFE)
Genomes Max Group AF 0.02823238 (NFE)
Exomes Max Group AF 0.03035576 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17470454C>A , CM000678.2:g.17470454C>A GRCh38
NC_000016.9:g.17564311C>A , CM000678.1:g.17564311C>A GRCh37
NC_000016.8:g.17471812C>A NCBI36
NG_015843.1:g.5428G>T
NG_015843.2:g.5428G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.343G>T MANE Select ENSP00000261381.6:p.Ala115Ser
ENST00000261381.6:c.343G>T ENSP00000261381.6:p.Ala115Ser
NM_022166.3:c.343G>T NP_071449.1:p.Ala115Ser
XM_011522574.1:c.343G>T XP_011520876.1:p.Ala115Ser
XM_017023539.2:c.343G>T XP_016879028.1:p.Ala115Ser
XM_017023540.2:c.343G>T XP_016879029.1:p.Ala115Ser
NM_022166.4:c.343G>T MANE Select NP_071449.1:p.Ala115Ser
Search 100 bp 5'
Search 100 bp 3'