Canonical Allele Identifier: CA482620765
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299340A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814795A>G , CM000674.2:g.128814795A>G GRCh38
NC_000012.11:g.129299340A>G , CM000674.1:g.129299340A>G GRCh37
NC_000012.10:g.127865293A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.822T>C MANE Select ENSP00000266771.5:p.Ser274=
ENST00000266771.9:c.822T>C ENSP00000266771.5:p.Ser274=
ENST00000366292.6:n.1134T>C
ENST00000376740.8:c.401T>C
ENST00000376744.8:c.658T>C
ENST00000539703.1:n.472T>C
ENST00000614634.1:c.-21T>C ENSP00000483143.1:n.-21T>C
NM_145648.3:c.822T>C NP_663623.1:p.Ser274=
XM_011537895.1:c.972T>C XP_011536197.1:p.Ser324=
XR_429081.2:n.845T>C
XR_944494.1:n.995T>C
XR_944495.1:n.995T>C
XR_944496.1:n.995T>C
XR_944497.1:n.995T>C
XM_017018791.1:c.972T>C XP_016874280.1:p.Ser324=
XM_017018792.1:c.972T>C XP_016874281.1:p.Ser324=
XM_017018793.1:c.822T>C XP_016874282.1:p.Ser274=
XR_002957287.1:n.845T>C
XR_944496.2:n.995T>C
NM_145648.4:c.822T>C MANE Select NP_663623.1:p.Ser274=