Canonical Allele Identifier: CA387235505

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299562C>G (hg19) ; chr12:g.128815017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815017C>G , CM000674.2:g.128815017C>G	GRCh38
NC_000012.11:g.129299562C>G , CM000674.1:g.129299562C>G	GRCh37
NC_000012.10:g.127865515C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.600G>C MANE Select	ENSP00000266771.5:p.Trp200Cys
ENST00000266771.9:c.600G>C	ENSP00000266771.5:p.Trp200Cys
ENST00000366292.6:n.912G>C
ENST00000376740.8:c.179G>C
ENST00000376744.8:c.436G>C
ENST00000535272.1:n.394G>C
ENST00000539703.1:n.250G>C
NM_145648.3:c.600G>C	NP_663623.1:p.Trp200Cys
XM_011537895.1:c.750G>C	XP_011536197.1:p.Trp250Cys
XR_429081.2:n.623G>C
XR_944494.1:n.773G>C
XR_944495.1:n.773G>C
XR_944496.1:n.773G>C
XR_944497.1:n.773G>C
XM_017018791.1:c.750G>C	XP_016874280.1:p.Trp250Cys
XM_017018792.1:c.750G>C	XP_016874281.1:p.Trp250Cys
XM_017018793.1:c.600G>C	XP_016874282.1:p.Trp200Cys
XR_002957287.1:n.623G>C
XR_944496.2:n.773G>C
NM_145648.4:c.600G>C MANE Select	NP_663623.1:p.Trp200Cys