Canonical Allele Identifier: CA7927797
Gene: XYLT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407697
ClinVar RCV Id: RCV001918572
dbSNP Id: rs757836390
ExAC: 16:17232208 T / C
gnomAD v2: 16-17232208-T-C
gnomAD v3: 16-17138351-T-C
gnomAD v4: 16-17138351-T-C
MyVariant Identifiers: chr16:g.17232208T>C (hg19) chr16:g.17138351T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138351T>C , CM000678.2:g.17138351T>C GRCh38
NC_000016.9:g.17232208T>C , CM000678.1:g.17232208T>C GRCh37
NC_000016.8:g.17139709T>C NCBI36
NG_015843.1:g.337531A>G
NG_015843.2:g.337531A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1764+4A>G MANE Select ENSP00000261381.6:n.1764+4A>G
ENST00000261381.6:c.1764+4A>G ENSP00000261381.6:n.1764+4A>G
NM_022166.3:c.1764+4A>G NP_071449.1:n.1764+4A>G
XM_011522574.1:c.1764+4A>G XP_011520876.1:n.1764+4A>G
XR_933141.1:n.284T>C
NR_135179.1:n.256T>C
XM_017023539.2:c.1764+4A>G XP_016879028.1:n.1764+4A>G
XM_017023540.2:c.1764+4A>G XP_016879029.1:n.1764+4A>G
NM_022166.4:c.1764+4A>G MANE Select NP_071449.1:n.1764+4A>G
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