Canonical Allele Identifier: CA482838126
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299541G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814996G>A , CM000674.2:g.128814996G>A GRCh38
NC_000012.11:g.129299541G>A , CM000674.1:g.129299541G>A GRCh37
NC_000012.10:g.127865494G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.621C>T MANE Select ENSP00000266771.5:p.Ile207=
ENST00000266771.9:c.621C>T ENSP00000266771.5:p.Ile207=
ENST00000366292.6:n.933C>T
ENST00000376740.8:c.200C>T
ENST00000376744.8:c.457C>T
ENST00000535272.1:n.415C>T
ENST00000539703.1:n.271C>T
NM_145648.3:c.621C>T NP_663623.1:p.Ile207=
XM_011537895.1:c.771C>T XP_011536197.1:p.Ile257=
XR_429081.2:n.644C>T
XR_944494.1:n.794C>T
XR_944495.1:n.794C>T
XR_944496.1:n.794C>T
XR_944497.1:n.794C>T
XM_017018791.1:c.771C>T XP_016874280.1:p.Ile257=
XM_017018792.1:c.771C>T XP_016874281.1:p.Ile257=
XM_017018793.1:c.621C>T XP_016874282.1:p.Ile207=
XR_002957287.1:n.644C>T
XR_944496.2:n.794C>T
NM_145648.4:c.621C>T MANE Select NP_663623.1:p.Ile207=