Canonical Allele Identifier: CA387235055

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1955725963
• gnomAD v4: 12-128814858-A-T
• MyVariant Identifiers: chr12:g.129299403A>T (hg19) ; chr12:g.128814858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814858A>T , CM000674.2:g.128814858A>T	GRCh38
NC_000012.11:g.129299403A>T , CM000674.1:g.129299403A>T	GRCh37
NC_000012.10:g.127865356A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.759T>A MANE Select	ENSP00000266771.5:p.Asp253Glu
ENST00000266771.9:c.759T>A	ENSP00000266771.5:p.Asp253Glu
ENST00000366292.6:n.1071T>A
ENST00000376740.8:c.338T>A
ENST00000376744.8:c.595T>A
ENST00000539703.1:n.409T>A
ENST00000614634.1:c.-84T>A	ENSP00000483143.1:n.-84T>A
NM_145648.3:c.759T>A	NP_663623.1:p.Asp253Glu
XM_011537895.1:c.909T>A	XP_011536197.1:p.Asp303Glu
XR_429081.2:n.782T>A
XR_944494.1:n.932T>A
XR_944495.1:n.932T>A
XR_944496.1:n.932T>A
XR_944497.1:n.932T>A
XM_017018791.1:c.909T>A	XP_016874280.1:p.Asp303Glu
XM_017018792.1:c.909T>A	XP_016874281.1:p.Asp303Glu
XM_017018793.1:c.759T>A	XP_016874282.1:p.Asp253Glu
XR_002957287.1:n.782T>A
XR_944496.2:n.932T>A
NM_145648.4:c.759T>A MANE Select	NP_663623.1:p.Asp253Glu