Canonical Allele Identifier: CA387235479

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299551A>T (hg19) ; chr12:g.128815006A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815006A>T , CM000674.2:g.128815006A>T	GRCh38
NC_000012.11:g.129299551A>T , CM000674.1:g.129299551A>T	GRCh37
NC_000012.10:g.127865504A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.611T>A MANE Select	ENSP00000266771.5:p.Leu204Gln
ENST00000266771.9:c.611T>A	ENSP00000266771.5:p.Leu204Gln
ENST00000366292.6:n.923T>A
ENST00000376740.8:c.190T>A
ENST00000376744.8:c.447T>A
ENST00000535272.1:n.405T>A
ENST00000539703.1:n.261T>A
NM_145648.3:c.611T>A	NP_663623.1:p.Leu204Gln
XM_011537895.1:c.761T>A	XP_011536197.1:p.Leu254Gln
XR_429081.2:n.634T>A
XR_944494.1:n.784T>A
XR_944495.1:n.784T>A
XR_944496.1:n.784T>A
XR_944497.1:n.784T>A
XM_017018791.1:c.761T>A	XP_016874280.1:p.Leu254Gln
XM_017018792.1:c.761T>A	XP_016874281.1:p.Leu254Gln
XM_017018793.1:c.611T>A	XP_016874282.1:p.Leu204Gln
XR_002957287.1:n.634T>A
XR_944496.2:n.784T>A
NM_145648.4:c.611T>A MANE Select	NP_663623.1:p.Leu204Gln