Canonical Allele Identifier: CA151425

Gene: XYLT1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.17259462G>A , CM000678.2:g.17259462G>A	GRCh38
NC_000016.9:g.17353319G>A , CM000678.1:g.17353319G>A	GRCh37
NC_000016.8:g.17260820G>A	NCBI36
NG_015843.1:g.216420C>T
NG_015843.2:g.216420C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022166.4:c.439C>T MANE Select	NP_071449.1:p.Arg147Ter
ENST00000261381.7:c.439C>T MANE Select	ENSP00000261381.6:p.Arg147Ter
NM_022166.3:c.439C>T	NP_071449.1:p.Arg147Ter
ENST00000261381.6:c.439C>T	ENSP00000261381.6:p.Arg147Ter
XM_011522574.1:c.439C>T	XP_011520876.1:p.Arg147Ter
XM_017023539.2:c.439C>T	XP_016879028.1:p.Arg147Ter
XM_017023540.2:c.439C>T	XP_016879029.1:p.Arg147Ter