Canonical Allele Identifier: CA387235267
Gene: SLC15A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814902C>T , CM000674.2:g.128814902C>T GRCh38
NC_000012.11:g.129299447C>T , CM000674.1:g.129299447C>T GRCh37
NC_000012.10:g.127865400C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.715G>A MANE Select ENSP00000266771.5:p.Val239Ile
ENST00000266771.9:c.715G>A ENSP00000266771.5:p.Val239Ile
ENST00000366292.6:n.1027G>A
ENST00000376740.8:c.294G>A
ENST00000376744.8:c.551G>A
ENST00000539703.1:n.365G>A
ENST00000614634.1:c.-128G>A ENSP00000483143.1:n.-128G>A
NM_145648.3:c.715G>A NP_663623.1:p.Val239Ile
XM_011537895.1:c.865G>A XP_011536197.1:p.Val289Ile
XR_429081.2:n.738G>A
XR_944494.1:n.888G>A
XR_944495.1:n.888G>A
XR_944496.1:n.888G>A
XR_944497.1:n.888G>A
XM_017018791.1:c.865G>A XP_016874280.1:p.Val289Ile
XM_017018792.1:c.865G>A XP_016874281.1:p.Val289Ile
XM_017018793.1:c.715G>A XP_016874282.1:p.Val239Ile
XR_002957287.1:n.738G>A
XR_944496.2:n.888G>A
NM_145648.4:c.715G>A MANE Select NP_663623.1:p.Val239Ile