Canonical Allele Identifier: CA395219570

Gene: XYLT1

Linked Data

• dbSNP Id: rs1224256238
• gnomAD v3: 16-17134602-T-G
• gnomAD v4: 16-17134602-T-G
• MyVariant Identifiers: chr16:g.17228459T>G (hg19) ; chr16:g.17134602T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17134602T>G , CM000678.2:g.17134602T>G	GRCh38
NC_000016.9:g.17228459T>G , CM000678.1:g.17228459T>G	GRCh37
NC_000016.8:g.17135960T>G	NCBI36
NG_015843.1:g.341280A>C
NG_015843.2:g.341280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261381.7:c.1898A>C MANE Select	ENSP00000261381.6:p.Asn633Thr
ENST00000261381.6:c.1898A>C	ENSP00000261381.6:p.Asn633Thr
NM_022166.3:c.1898A>C	NP_071449.1:p.Asn633Thr
XM_011522574.1:c.1898A>C	XP_011520876.1:p.Asn633Thr
XR_933140.1:n.82+52T>G
XR_933141.1:n.75+52T>G
XR_933143.1:n.82+52T>G
NR_135179.1:n.47+52T>G
XM_017023539.2:c.1898A>C	XP_016879028.1:p.Asn633Thr
XM_017023540.2:c.1898A>C	XP_016879029.1:p.Asn633Thr
NM_022166.4:c.1898A>C MANE Select	NP_071449.1:p.Asn633Thr