Canonical Allele Identifier: CA482620775

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1486846798
• gnomAD v2: 12-129299355-A-G
• gnomAD v4: 12-128814810-A-G
• MyVariant Identifiers: chr12:g.129299355A>G (hg19) ; chr12:g.128814810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814810A>G , CM000674.2:g.128814810A>G	GRCh38
NC_000012.11:g.129299355A>G , CM000674.1:g.129299355A>G	GRCh37
NC_000012.10:g.127865308A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.807T>C MANE Select	ENSP00000266771.5:p.Cys269=
ENST00000266771.9:c.807T>C	ENSP00000266771.5:p.Cys269=
ENST00000366292.6:n.1119T>C
ENST00000376740.8:c.386T>C
ENST00000376744.8:c.643T>C
ENST00000539703.1:n.457T>C
ENST00000614634.1:c.-36T>C	ENSP00000483143.1:n.-36T>C
NM_145648.3:c.807T>C	NP_663623.1:p.Cys269=
XM_011537895.1:c.957T>C	XP_011536197.1:p.Cys319=
XR_429081.2:n.830T>C
XR_944494.1:n.980T>C
XR_944495.1:n.980T>C
XR_944496.1:n.980T>C
XR_944497.1:n.980T>C
XM_017018791.1:c.957T>C	XP_016874280.1:p.Cys319=
XM_017018792.1:c.957T>C	XP_016874281.1:p.Cys319=
XM_017018793.1:c.807T>C	XP_016874282.1:p.Cys269=
XR_002957287.1:n.830T>C
XR_944496.2:n.980T>C
NM_145648.4:c.807T>C MANE Select	NP_663623.1:p.Cys269=