Canonical Allele Identifier: CA387235547

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1235514065
• gnomAD v2: 12-129299577-A-T
• gnomAD v3: 12-128815032-A-T
• gnomAD v4: 12-128815032-A-T
• MyVariant Identifiers: chr12:g.129299577A>T (hg19) ; chr12:g.128815032A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815032A>T , CM000674.2:g.128815032A>T	GRCh38
NC_000012.11:g.129299577A>T , CM000674.1:g.129299577A>T	GRCh37
NC_000012.10:g.127865530A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.585T>A MANE Select	ENSP00000266771.5:p.Phe195Leu
ENST00000266771.9:c.585T>A	ENSP00000266771.5:p.Phe195Leu
ENST00000366292.6:n.897T>A
ENST00000376740.8:c.164T>A
ENST00000376744.8:c.421T>A
ENST00000535272.1:n.379T>A
ENST00000539703.1:n.235T>A
NM_145648.3:c.585T>A	NP_663623.1:p.Phe195Leu
XM_011537895.1:c.735T>A	XP_011536197.1:p.Phe245Leu
XR_429081.2:n.608T>A
XR_944494.1:n.758T>A
XR_944495.1:n.758T>A
XR_944496.1:n.758T>A
XR_944497.1:n.758T>A
XM_017018791.1:c.735T>A	XP_016874280.1:p.Phe245Leu
XM_017018792.1:c.735T>A	XP_016874281.1:p.Phe245Leu
XM_017018793.1:c.585T>A	XP_016874282.1:p.Phe195Leu
XR_002957287.1:n.608T>A
XR_944496.2:n.758T>A
NM_145648.4:c.585T>A MANE Select	NP_663623.1:p.Phe195Leu