Canonical Allele Identifier: CA395219758
Gene: XYLT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134690C>T , CM000678.2:g.17134690C>T GRCh38
NC_000016.9:g.17228547C>T , CM000678.1:g.17228547C>T GRCh37
NC_000016.8:g.17136048C>T NCBI36
NG_015843.1:g.341192G>A
NG_015843.2:g.341192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1810G>A MANE Select ENSP00000261381.6:p.Val604Met
ENST00000261381.6:c.1810G>A ENSP00000261381.6:p.Val604Met
NM_022166.3:c.1810G>A NP_071449.1:p.Val604Met
XM_011522574.1:c.1810G>A XP_011520876.1:p.Val604Met
XR_933140.1:n.82+140C>T
XR_933141.1:n.75+140C>T
XR_933143.1:n.82+140C>T
NR_135179.1:n.47+140C>T
XM_017023539.2:c.1810G>A XP_016879028.1:p.Val604Met
XM_017023540.2:c.1810G>A XP_016879029.1:p.Val604Met
NM_022166.4:c.1810G>A MANE Select NP_071449.1:p.Val604Met