Canonical Allele Identifier: CA6875188

Gene: SLC15A4

Linked Data

• dbSNP Id: rs372778170
• ExAC: 12:129299604 T / A
• gnomAD v2: 12-129299604-T-A
• gnomAD v3: 12-128815059-T-A
• gnomAD v4: 12-128815059-T-A
• MyVariant Identifiers: chr12:g.129299604T>A (hg19) ; chr12:g.128815059T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815059T>A , CM000674.2:g.128815059T>A	GRCh38
NC_000012.11:g.129299604T>A , CM000674.1:g.129299604T>A	GRCh37
NC_000012.10:g.127865557T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.558A>T MANE Select	ENSP00000266771.5:p.Arg186=
ENST00000266771.9:c.558A>T	ENSP00000266771.5:p.Arg186=
ENST00000366292.6:n.870A>T
ENST00000376740.8:c.137A>T
ENST00000376744.8:c.394A>T
ENST00000535272.1:n.352A>T
ENST00000539703.1:n.208A>T
NM_145648.3:c.558A>T	NP_663623.1:p.Arg186=
XM_011537895.1:c.708A>T	XP_011536197.1:p.Arg236=
XR_429081.2:n.581A>T
XR_944494.1:n.731A>T
XR_944495.1:n.731A>T
XR_944496.1:n.731A>T
XR_944497.1:n.731A>T
XM_017018791.1:c.708A>T	XP_016874280.1:p.Arg236=
XM_017018792.1:c.708A>T	XP_016874281.1:p.Arg236=
XM_017018793.1:c.558A>T	XP_016874282.1:p.Arg186=
XR_002957287.1:n.581A>T
XR_944496.2:n.731A>T
NM_145648.4:c.558A>T MANE Select	NP_663623.1:p.Arg186=