Canonical Allele Identifier: CA482838076
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299463G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814918G>T , CM000674.2:g.128814918G>T GRCh38
NC_000012.11:g.129299463G>T , CM000674.1:g.129299463G>T GRCh37
NC_000012.10:g.127865416G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.699C>A MANE Select ENSP00000266771.5:p.Val233=
ENST00000266771.9:c.699C>A ENSP00000266771.5:p.Val233=
ENST00000366292.6:n.1011C>A
ENST00000376740.8:c.278C>A
ENST00000376744.8:c.535C>A
ENST00000539703.1:n.349C>A
ENST00000614634.1:c.-144C>A ENSP00000483143.1:n.-144C>A
NM_145648.3:c.699C>A NP_663623.1:p.Val233=
XM_011537895.1:c.849C>A XP_011536197.1:p.Val283=
XR_429081.2:n.722C>A
XR_944494.1:n.872C>A
XR_944495.1:n.872C>A
XR_944496.1:n.872C>A
XR_944497.1:n.872C>A
XM_017018791.1:c.849C>A XP_016874280.1:p.Val283=
XM_017018792.1:c.849C>A XP_016874281.1:p.Val283=
XM_017018793.1:c.699C>A XP_016874282.1:p.Val233=
XR_002957287.1:n.722C>A
XR_944496.2:n.872C>A
NM_145648.4:c.699C>A MANE Select NP_663623.1:p.Val233=