Canonical Allele Identifier: CA6875161

Gene: SLC15A4

Linked Data

• dbSNP Id: rs755410968
• ExAC: 12:129299468 A / G
• gnomAD v2: 12-129299468-A-G
• gnomAD v4: 12-128814923-A-G
• MyVariant Identifiers: chr12:g.129299468A>G (hg19) ; chr12:g.128814923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814923A>G , CM000674.2:g.128814923A>G	GRCh38
NC_000012.11:g.129299468A>G , CM000674.1:g.129299468A>G	GRCh37
NC_000012.10:g.127865421A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.694T>C MANE Select	ENSP00000266771.5:p.Cys232Arg
ENST00000266771.9:c.694T>C	ENSP00000266771.5:p.Cys232Arg
ENST00000366292.6:n.1006T>C
ENST00000376740.8:c.273T>C
ENST00000376744.8:c.530T>C
ENST00000539703.1:n.344T>C
ENST00000614634.1:c.-149T>C	ENSP00000483143.1:n.-149T>C
NM_145648.3:c.694T>C	NP_663623.1:p.Cys232Arg
XM_011537895.1:c.844T>C	XP_011536197.1:p.Cys282Arg
XR_429081.2:n.717T>C
XR_944494.1:n.867T>C
XR_944495.1:n.867T>C
XR_944496.1:n.867T>C
XR_944497.1:n.867T>C
XM_017018791.1:c.844T>C	XP_016874280.1:p.Cys282Arg
XM_017018792.1:c.844T>C	XP_016874281.1:p.Cys282Arg
XM_017018793.1:c.694T>C	XP_016874282.1:p.Cys232Arg
XR_002957287.1:n.717T>C
XR_944496.2:n.867T>C
NM_145648.4:c.694T>C MANE Select	NP_663623.1:p.Cys232Arg