Canonical Allele Identifier: CA8646489
Community Standard Title: NM_022167.4(XYLT2):c.1581C>A (p.Pro527=)
Gene: XYLT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50356609C>A , CM000679.2:g.50356609C>A GRCh38
NC_000017.10:g.48433970C>A , CM000679.1:g.48433970C>A GRCh37
NC_000017.9:g.45788969C>A NCBI36
NG_012175.1:g.15578C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.1581C>A MANE Select NP_071450.2:p.Pro527=
ENST00000017003.7:c.1581C>A MANE Select ENSP00000017003.2:p.Pro527=
NM_022167.3:c.1581C>A NP_071450.2:p.Pro527=
NR_110010.1:n.1690C>A
NR_110010.2:n.1596C>A
ENST00000017003.6:c.1581C>A ENSP00000017003.2:p.Pro527=
ENST00000376550.7:c.1581C>A ENSP00000365733.3:p.Pro527=
ENST00000507602.5:c.1581C>A ENSP00000426501.1:p.Pro527=
ENST00000511654.1:c.177C>A ENSP00000428350.1:p.Pro59=
XM_005257572.3:c.1485C>A XP_005257629.1:p.Pro495=
XM_005257572.4:c.1485C>A XP_005257629.1:p.Pro495=
XM_011525114.1:c.990C>A XP_011523416.1:p.Pro330=