Canonical Allele Identifier: CA6875163

Gene: SLC15A4

Linked Data

• dbSNP Id: rs751202723
• ExAC: 12:129299477 G / T
• gnomAD v2: 12-129299477-G-T
• gnomAD v4: 12-128814932-G-T
• MyVariant Identifiers: chr12:g.129299477G>T (hg19) ; chr12:g.128814932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814932G>T , CM000674.2:g.128814932G>T	GRCh38
NC_000012.11:g.129299477G>T , CM000674.1:g.129299477G>T	GRCh37
NC_000012.10:g.127865430G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.685C>A MANE Select	ENSP00000266771.5:p.Pro229Thr
ENST00000266771.9:c.685C>A	ENSP00000266771.5:p.Pro229Thr
ENST00000366292.6:n.997C>A
ENST00000376740.8:c.264C>A
ENST00000376744.8:c.521C>A
ENST00000539703.1:n.335C>A
ENST00000614634.1:c.-158C>A	ENSP00000483143.1:n.-158C>A
NM_145648.3:c.685C>A	NP_663623.1:p.Pro229Thr
XM_011537895.1:c.835C>A	XP_011536197.1:p.Pro279Thr
XR_429081.2:n.708C>A
XR_944494.1:n.858C>A
XR_944495.1:n.858C>A
XR_944496.1:n.858C>A
XR_944497.1:n.858C>A
XM_017018791.1:c.835C>A	XP_016874280.1:p.Pro279Thr
XM_017018792.1:c.835C>A	XP_016874281.1:p.Pro279Thr
XM_017018793.1:c.685C>A	XP_016874282.1:p.Pro229Thr
XR_002957287.1:n.708C>A
XR_944496.2:n.858C>A
NM_145648.4:c.685C>A MANE Select	NP_663623.1:p.Pro229Thr