Canonical Allele Identifier: CA482838099

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299493G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814948G>T , CM000674.2:g.128814948G>T	GRCh38
NC_000012.11:g.129299493G>T , CM000674.1:g.129299493G>T	GRCh37
NC_000012.10:g.127865446G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.669C>A MANE Select	ENSP00000266771.5:p.Val223=
ENST00000266771.9:c.669C>A	ENSP00000266771.5:p.Val223=
ENST00000366292.6:n.981C>A
ENST00000376740.8:c.248C>A
ENST00000376744.8:c.505C>A
ENST00000539703.1:n.319C>A
ENST00000614634.1:c.-174C>A	ENSP00000483143.1:n.-174C>A
NM_145648.3:c.669C>A	NP_663623.1:p.Val223=
XM_011537895.1:c.819C>A	XP_011536197.1:p.Val273=
XR_429081.2:n.692C>A
XR_944494.1:n.842C>A
XR_944495.1:n.842C>A
XR_944496.1:n.842C>A
XR_944497.1:n.842C>A
XM_017018791.1:c.819C>A	XP_016874280.1:p.Val273=
XM_017018792.1:c.819C>A	XP_016874281.1:p.Val273=
XM_017018793.1:c.669C>A	XP_016874282.1:p.Val223=
XR_002957287.1:n.692C>A
XR_944496.2:n.842C>A
NM_145648.4:c.669C>A MANE Select	NP_663623.1:p.Val223=