Canonical Allele Identifier: CA8646508
Community Standard Title: NM_022167.4(XYLT2):c.1623C>T (p.Tyr541=)
Gene: XYLT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50356651C>T , CM000679.2:g.50356651C>T GRCh38
NC_000017.10:g.48434012C>T , CM000679.1:g.48434012C>T GRCh37
NC_000017.9:g.45789011C>T NCBI36
NG_012175.1:g.15620C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022167.4:c.1623C>T MANE Select NP_071450.2:p.Tyr541=
ENST00000017003.7:c.1623C>T MANE Select ENSP00000017003.2:p.Tyr541=
NM_022167.3:c.1623C>T NP_071450.2:p.Tyr541=
NR_110010.1:n.1732C>T
NR_110010.2:n.1638C>T
ENST00000017003.6:c.1623C>T ENSP00000017003.2:p.Tyr541=
ENST00000376550.7:c.1623C>T ENSP00000365733.3:p.Tyr541=
ENST00000507602.5:c.1623C>T ENSP00000426501.1:p.Tyr541=
ENST00000511654.1:c.219C>T ENSP00000428350.1:p.Tyr73=
XM_005257572.3:c.1527C>T XP_005257629.1:p.Tyr509=
XM_005257572.4:c.1527C>T XP_005257629.1:p.Tyr509=
XM_011525114.1:c.1032C>T XP_011523416.1:p.Tyr344=