Canonical Allele Identifier: CA387235429
Gene: SLC15A4 HGNC NCBI

Linked Data

dbSNP Id: rs1336826598

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814980T>G , CM000674.2:g.128814980T>G GRCh38
NC_000012.11:g.129299525T>G , CM000674.1:g.129299525T>G GRCh37
NC_000012.10:g.127865478T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.637A>C MANE Select ENSP00000266771.5:p.Ile213Leu
ENST00000266771.9:c.637A>C ENSP00000266771.5:p.Ile213Leu
ENST00000366292.6:n.949A>C
ENST00000376740.8:c.216A>C
ENST00000376744.8:c.473A>C
ENST00000535272.1:n.431A>C
ENST00000539703.1:n.287A>C
NM_145648.3:c.637A>C NP_663623.1:p.Ile213Leu
XM_011537895.1:c.787A>C XP_011536197.1:p.Ile263Leu
XR_429081.2:n.660A>C
XR_944494.1:n.810A>C
XR_944495.1:n.810A>C
XR_944496.1:n.810A>C
XR_944497.1:n.810A>C
XM_017018791.1:c.787A>C XP_016874280.1:p.Ile263Leu
XM_017018792.1:c.787A>C XP_016874281.1:p.Ile263Leu
XM_017018793.1:c.637A>C XP_016874282.1:p.Ile213Leu
XR_002957287.1:n.660A>C
XR_944496.2:n.810A>C
NM_145648.4:c.637A>C MANE Select NP_663623.1:p.Ile213Leu