Canonical Allele Identifier: CA387235261

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299444A>C (hg19) ; chr12:g.128814899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814899A>C , CM000674.2:g.128814899A>C	GRCh38
NC_000012.11:g.129299444A>C , CM000674.1:g.129299444A>C	GRCh37
NC_000012.10:g.127865397A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.718T>G MANE Select	ENSP00000266771.5:p.Phe240Val
ENST00000266771.9:c.718T>G	ENSP00000266771.5:p.Phe240Val
ENST00000366292.6:n.1030T>G
ENST00000376740.8:c.297T>G
ENST00000376744.8:c.554T>G
ENST00000539703.1:n.368T>G
ENST00000614634.1:c.-125T>G	ENSP00000483143.1:n.-125T>G
NM_145648.3:c.718T>G	NP_663623.1:p.Phe240Val
XM_011537895.1:c.868T>G	XP_011536197.1:p.Phe290Val
XR_429081.2:n.741T>G
XR_944494.1:n.891T>G
XR_944495.1:n.891T>G
XR_944496.1:n.891T>G
XR_944497.1:n.891T>G
XM_017018791.1:c.868T>G	XP_016874280.1:p.Phe290Val
XM_017018792.1:c.868T>G	XP_016874281.1:p.Phe290Val
XM_017018793.1:c.718T>G	XP_016874282.1:p.Phe240Val
XR_002957287.1:n.741T>G
XR_944496.2:n.891T>G
NM_145648.4:c.718T>G MANE Select	NP_663623.1:p.Phe240Val