Canonical Allele Identifier: CA387235428

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1336826598
• gnomAD v2: 12-129299525-T-C
• gnomAD v4: 12-128814980-T-C
• MyVariant Identifiers: chr12:g.129299525T>C (hg19) ; chr12:g.128814980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814980T>C , CM000674.2:g.128814980T>C	GRCh38
NC_000012.11:g.129299525T>C , CM000674.1:g.129299525T>C	GRCh37
NC_000012.10:g.127865478T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.637A>G MANE Select	ENSP00000266771.5:p.Ile213Val
ENST00000266771.9:c.637A>G	ENSP00000266771.5:p.Ile213Val
ENST00000366292.6:n.949A>G
ENST00000376740.8:c.216A>G
ENST00000376744.8:c.473A>G
ENST00000535272.1:n.431A>G
ENST00000539703.1:n.287A>G
NM_145648.3:c.637A>G	NP_663623.1:p.Ile213Val
XM_011537895.1:c.787A>G	XP_011536197.1:p.Ile263Val
XR_429081.2:n.660A>G
XR_944494.1:n.810A>G
XR_944495.1:n.810A>G
XR_944496.1:n.810A>G
XR_944497.1:n.810A>G
XM_017018791.1:c.787A>G	XP_016874280.1:p.Ile263Val
XM_017018792.1:c.787A>G	XP_016874281.1:p.Ile263Val
XM_017018793.1:c.637A>G	XP_016874282.1:p.Ile213Val
XR_002957287.1:n.660A>G
XR_944496.2:n.810A>G
NM_145648.4:c.637A>G MANE Select	NP_663623.1:p.Ile213Val