Canonical Allele Identifier: CA395219818
Gene: XYLT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.17134717A>G , CM000678.2:g.17134717A>G GRCh38
NC_000016.9:g.17228574A>G , CM000678.1:g.17228574A>G GRCh37
NC_000016.8:g.17136075A>G NCBI36
NG_015843.1:g.341165T>C
NG_015843.2:g.341165T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261381.7:c.1783T>C MANE Select ENSP00000261381.6:p.Phe595Leu
ENST00000261381.6:c.1783T>C ENSP00000261381.6:p.Phe595Leu
NM_022166.3:c.1783T>C NP_071449.1:p.Phe595Leu
XM_011522574.1:c.1783T>C XP_011520876.1:p.Phe595Leu
XR_933140.1:n.82+167A>G
XR_933141.1:n.75+167A>G
XR_933143.1:n.82+167A>G
NR_135179.1:n.47+167A>G
XM_017023539.2:c.1783T>C XP_016879028.1:p.Phe595Leu
XM_017023540.2:c.1783T>C XP_016879029.1:p.Phe595Leu
NM_022166.4:c.1783T>C MANE Select NP_071449.1:p.Phe595Leu