Canonical Allele Identifier: CA387235333
Gene: SLC15A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2249091
ClinVar RCV Id: RCV004113236
dbSNP Id: rs1379671934

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814938C>A , CM000674.2:g.128814938C>A GRCh38
NC_000012.11:g.129299483C>A , CM000674.1:g.129299483C>A GRCh37
NC_000012.10:g.127865436C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.679G>T MANE Select ENSP00000266771.5:p.Ala227Ser
ENST00000266771.9:c.679G>T ENSP00000266771.5:p.Ala227Ser
ENST00000366292.6:n.991G>T
ENST00000376740.8:c.258G>T
ENST00000376744.8:c.515G>T
ENST00000539703.1:n.329G>T
ENST00000614634.1:c.-164G>T ENSP00000483143.1:n.-164G>T
NM_145648.3:c.679G>T NP_663623.1:p.Ala227Ser
XM_011537895.1:c.829G>T XP_011536197.1:p.Ala277Ser
XR_429081.2:n.702G>T
XR_944494.1:n.852G>T
XR_944495.1:n.852G>T
XR_944496.1:n.852G>T
XR_944497.1:n.852G>T
XM_017018791.1:c.829G>T XP_016874280.1:p.Ala277Ser
XM_017018792.1:c.829G>T XP_016874281.1:p.Ala277Ser
XM_017018793.1:c.679G>T XP_016874282.1:p.Ala227Ser
XR_002957287.1:n.702G>T
XR_944496.2:n.852G>T
NM_145648.4:c.679G>T MANE Select NP_663623.1:p.Ala227Ser