Canonical Allele Identifier: CA245313600

Gene: SLC15A4

Linked Data

• ClinVar Variation Id: 2337008
• ClinVar RCV Id: RCV004173760
• dbSNP Id: rs754716226
• gnomAD v4: 12-128814881-C-A
• MyVariant Identifiers: chr12:g.129299426C>A (hg19) ; chr12:g.128814881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814881C>A , CM000674.2:g.128814881C>A	GRCh38
NC_000012.11:g.129299426C>A , CM000674.1:g.129299426C>A	GRCh37
NC_000012.10:g.127865379C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.736G>T MANE Select	ENSP00000266771.5:p.Val246Phe
ENST00000266771.9:c.736G>T	ENSP00000266771.5:p.Val246Phe
ENST00000366292.6:n.1048G>T
ENST00000376740.8:c.315G>T
ENST00000376744.8:c.572G>T
ENST00000539703.1:n.386G>T
ENST00000614634.1:c.-107G>T	ENSP00000483143.1:n.-107G>T
NM_145648.3:c.736G>T	NP_663623.1:p.Val246Phe
XM_011537895.1:c.886G>T	XP_011536197.1:p.Val296Phe
XR_429081.2:n.759G>T
XR_944494.1:n.909G>T
XR_944495.1:n.909G>T
XR_944496.1:n.909G>T
XR_944497.1:n.909G>T
XM_017018791.1:c.886G>T	XP_016874280.1:p.Val296Phe
XM_017018792.1:c.886G>T	XP_016874281.1:p.Val296Phe
XM_017018793.1:c.736G>T	XP_016874282.1:p.Val246Phe
XR_002957287.1:n.759G>T
XR_944496.2:n.909G>T
NM_145648.4:c.736G>T MANE Select	NP_663623.1:p.Val246Phe