Canonical Allele Identifier: CA387235088
Gene: SLC15A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814865G>T , CM000674.2:g.128814865G>T GRCh38
NC_000012.11:g.129299410G>T , CM000674.1:g.129299410G>T GRCh37
NC_000012.10:g.127865363G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.752C>A MANE Select ENSP00000266771.5:p.Pro251His
ENST00000266771.9:c.752C>A ENSP00000266771.5:p.Pro251His
ENST00000366292.6:n.1064C>A
ENST00000376740.8:c.331C>A
ENST00000376744.8:c.588C>A
ENST00000539703.1:n.402C>A
ENST00000614634.1:c.-91C>A ENSP00000483143.1:n.-91C>A
NM_145648.3:c.752C>A NP_663623.1:p.Pro251His
XM_011537895.1:c.902C>A XP_011536197.1:p.Pro301His
XR_429081.2:n.775C>A
XR_944494.1:n.925C>A
XR_944495.1:n.925C>A
XR_944496.1:n.925C>A
XR_944497.1:n.925C>A
XM_017018791.1:c.902C>A XP_016874280.1:p.Pro301His
XM_017018792.1:c.902C>A XP_016874281.1:p.Pro301His
XM_017018793.1:c.752C>A XP_016874282.1:p.Pro251His
XR_002957287.1:n.775C>A
XR_944496.2:n.925C>A
NM_145648.4:c.752C>A MANE Select NP_663623.1:p.Pro251His