Canonical Allele Identifier: CA387235394

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299510G>T (hg19) ; chr12:g.128814965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814965G>T , CM000674.2:g.128814965G>T	GRCh38
NC_000012.11:g.129299510G>T , CM000674.1:g.129299510G>T	GRCh37
NC_000012.10:g.127865463G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.652C>A MANE Select	ENSP00000266771.5:p.Gln218Lys
ENST00000266771.9:c.652C>A	ENSP00000266771.5:p.Gln218Lys
ENST00000366292.6:n.964C>A
ENST00000376740.8:c.231C>A
ENST00000376744.8:c.488C>A
ENST00000535272.1:n.446C>A
ENST00000539703.1:n.302C>A
NM_145648.3:c.652C>A	NP_663623.1:p.Gln218Lys
XM_011537895.1:c.802C>A	XP_011536197.1:p.Gln268Lys
XR_429081.2:n.675C>A
XR_944494.1:n.825C>A
XR_944495.1:n.825C>A
XR_944496.1:n.825C>A
XR_944497.1:n.825C>A
XM_017018791.1:c.802C>A	XP_016874280.1:p.Gln268Lys
XM_017018792.1:c.802C>A	XP_016874281.1:p.Gln268Lys
XM_017018793.1:c.652C>A	XP_016874282.1:p.Gln218Lys
XR_002957287.1:n.675C>A
XR_944496.2:n.825C>A
NM_145648.4:c.652C>A MANE Select	NP_663623.1:p.Gln218Lys