Canonical Allele Identifier: CA394875137
Gene: XYLT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17138373C>G , CM000678.2:g.17138373C>G GRCh38
NC_000016.9:g.17232230C>G , CM000678.1:g.17232230C>G GRCh37
NC_000016.8:g.17139731C>G NCBI36
NG_015843.1:g.337509G>C
NG_015843.2:g.337509G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1746G>C MANE Select ENSP00000261381.6:p.Gln582His
ENST00000261381.6:c.1746G>C ENSP00000261381.6:p.Gln582His
NM_022166.3:c.1746G>C NP_071449.1:p.Gln582His
XM_011522574.1:c.1746G>C XP_011520876.1:p.Gln582His
XR_933141.1:n.306C>G
NR_135179.1:n.278C>G
XM_017023539.2:c.1746G>C XP_016879028.1:p.Gln582His
XM_017023540.2:c.1746G>C XP_016879029.1:p.Gln582His
NM_022166.4:c.1746G>C MANE Select NP_071449.1:p.Gln582His