Canonical Allele Identifier: CA387235108

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1955726398
• MyVariant Identifiers: chr12:g.129299414T>G (hg19) ; chr12:g.128814869T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814869T>G , CM000674.2:g.128814869T>G	GRCh38
NC_000012.11:g.129299414T>G , CM000674.1:g.129299414T>G	GRCh37
NC_000012.10:g.127865367T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.748A>C MANE Select	ENSP00000266771.5:p.Lys250Gln
ENST00000266771.9:c.748A>C	ENSP00000266771.5:p.Lys250Gln
ENST00000366292.6:n.1060A>C
ENST00000376740.8:c.327A>C
ENST00000376744.8:c.584A>C
ENST00000539703.1:n.398A>C
ENST00000614634.1:c.-95A>C	ENSP00000483143.1:n.-95A>C
NM_145648.3:c.748A>C	NP_663623.1:p.Lys250Gln
XM_011537895.1:c.898A>C	XP_011536197.1:p.Lys300Gln
XR_429081.2:n.771A>C
XR_944494.1:n.921A>C
XR_944495.1:n.921A>C
XR_944496.1:n.921A>C
XR_944497.1:n.921A>C
XM_017018791.1:c.898A>C	XP_016874280.1:p.Lys300Gln
XM_017018792.1:c.898A>C	XP_016874281.1:p.Lys300Gln
XM_017018793.1:c.748A>C	XP_016874282.1:p.Lys250Gln
XR_002957287.1:n.771A>C
XR_944496.2:n.921A>C
NM_145648.4:c.748A>C MANE Select	NP_663623.1:p.Lys250Gln