Canonical Allele Identifier: CA482838061

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1319860311
• gnomAD v2: 12-129299445-G-A
• gnomAD v4: 12-128814900-G-A
• MyVariant Identifiers: chr12:g.129299445G>A (hg19) ; chr12:g.128814900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814900G>A , CM000674.2:g.128814900G>A	GRCh38
NC_000012.11:g.129299445G>A , CM000674.1:g.129299445G>A	GRCh37
NC_000012.10:g.127865398G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.717C>T MANE Select	ENSP00000266771.5:p.Val239=
ENST00000266771.9:c.717C>T	ENSP00000266771.5:p.Val239=
ENST00000366292.6:n.1029C>T
ENST00000376740.8:c.296C>T
ENST00000376744.8:c.553C>T
ENST00000539703.1:n.367C>T
ENST00000614634.1:c.-126C>T	ENSP00000483143.1:n.-126C>T
NM_145648.3:c.717C>T	NP_663623.1:p.Val239=
XM_011537895.1:c.867C>T	XP_011536197.1:p.Val289=
XR_429081.2:n.740C>T
XR_944494.1:n.890C>T
XR_944495.1:n.890C>T
XR_944496.1:n.890C>T
XR_944497.1:n.890C>T
XM_017018791.1:c.867C>T	XP_016874280.1:p.Val289=
XM_017018792.1:c.867C>T	XP_016874281.1:p.Val289=
XM_017018793.1:c.717C>T	XP_016874282.1:p.Val239=
XR_002957287.1:n.740C>T
XR_944496.2:n.890C>T
NM_145648.4:c.717C>T MANE Select	NP_663623.1:p.Val239=