Canonical Allele Identifier: CA387235586

Gene: SLC15A4

Linked Data

• gnomAD v4: 12-128815049-C-T
• MyVariant Identifiers: chr12:g.129299594C>T (hg19) ; chr12:g.128815049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815049C>T , CM000674.2:g.128815049C>T	GRCh38
NC_000012.11:g.129299594C>T , CM000674.1:g.129299594C>T	GRCh37
NC_000012.10:g.127865547C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.568G>A MANE Select	ENSP00000266771.5:p.Ala190Thr
ENST00000266771.9:c.568G>A	ENSP00000266771.5:p.Ala190Thr
ENST00000366292.6:n.880G>A
ENST00000376740.8:c.147G>A
ENST00000376744.8:c.404G>A
ENST00000535272.1:n.362G>A
ENST00000539703.1:n.218G>A
NM_145648.3:c.568G>A	NP_663623.1:p.Ala190Thr
XM_011537895.1:c.718G>A	XP_011536197.1:p.Ala240Thr
XR_429081.2:n.591G>A
XR_944494.1:n.741G>A
XR_944495.1:n.741G>A
XR_944496.1:n.741G>A
XR_944497.1:n.741G>A
XM_017018791.1:c.718G>A	XP_016874280.1:p.Ala240Thr
XM_017018792.1:c.718G>A	XP_016874281.1:p.Ala240Thr
XM_017018793.1:c.568G>A	XP_016874282.1:p.Ala190Thr
XR_002957287.1:n.591G>A
XR_944496.2:n.741G>A
NM_145648.4:c.568G>A MANE Select	NP_663623.1:p.Ala190Thr