Canonical Allele Identifier: CA7928294
Community Standard Title: NM_022166.4(XYLT1):c.59C>T (p.Ala20Val)
Gene: XYLT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17470738G>A , CM000678.2:g.17470738G>A GRCh38
NC_000016.9:g.17564595G>A , CM000678.1:g.17564595G>A GRCh37
NC_000016.8:g.17472096G>A NCBI36
NG_015843.1:g.5144C>T
NG_015843.2:g.5144C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022166.4:c.59C>T MANE Select NP_071449.1:p.Ala20Val
ENST00000261381.7:c.59C>T MANE Select ENSP00000261381.6:p.Ala20Val
NM_022166.3:c.59C>T NP_071449.1:p.Ala20Val
ENST00000261381.6:c.59C>T ENSP00000261381.6:p.Ala20Val
XM_011522574.1:c.59C>T XP_011520876.1:p.Ala20Val
XM_017023539.2:c.59C>T XP_016879028.1:p.Ala20Val
XM_017023540.2:c.59C>T XP_016879029.1:p.Ala20Val