Canonical Allele Identifier: CA482838055

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1172381357
• gnomAD v4: 12-128814894-G-A
• COSMIC: COSM4846051
• MyVariant Identifiers: chr12:g.129299439G>A (hg19) ; chr12:g.128814894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814894G>A , CM000674.2:g.128814894G>A	GRCh38
NC_000012.11:g.129299439G>A , CM000674.1:g.129299439G>A	GRCh37
NC_000012.10:g.127865392G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.723C>T MANE Select	ENSP00000266771.5:p.Leu241=
ENST00000266771.9:c.723C>T	ENSP00000266771.5:p.Leu241=
ENST00000366292.6:n.1035C>T
ENST00000376740.8:c.302C>T
ENST00000376744.8:c.559C>T
ENST00000539703.1:n.373C>T
ENST00000614634.1:c.-120C>T	ENSP00000483143.1:n.-120C>T
NM_145648.3:c.723C>T	NP_663623.1:p.Leu241=
XM_011537895.1:c.873C>T	XP_011536197.1:p.Leu291=
XR_429081.2:n.746C>T
XR_944494.1:n.896C>T
XR_944495.1:n.896C>T
XR_944496.1:n.896C>T
XR_944497.1:n.896C>T
XM_017018791.1:c.873C>T	XP_016874280.1:p.Leu291=
XM_017018792.1:c.873C>T	XP_016874281.1:p.Leu291=
XM_017018793.1:c.723C>T	XP_016874282.1:p.Leu241=
XR_002957287.1:n.746C>T
XR_944496.2:n.896C>T
NM_145648.4:c.723C>T MANE Select	NP_663623.1:p.Leu241=