Canonical Allele Identifier: CA387235623

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299612T>G (hg19) ; chr12:g.128815067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815067T>G , CM000674.2:g.128815067T>G	GRCh38
NC_000012.11:g.129299612T>G , CM000674.1:g.129299612T>G	GRCh37
NC_000012.10:g.127865565T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.550A>C MANE Select	ENSP00000266771.5:p.Lys184Gln
ENST00000266771.9:c.550A>C	ENSP00000266771.5:p.Lys184Gln
ENST00000366292.6:n.862A>C
ENST00000376740.8:c.129A>C
ENST00000376744.8:c.386A>C
ENST00000535272.1:n.344A>C
ENST00000539703.1:n.200A>C
NM_145648.3:c.550A>C	NP_663623.1:p.Lys184Gln
XM_011537895.1:c.700A>C	XP_011536197.1:p.Lys234Gln
XR_429081.2:n.573A>C
XR_944494.1:n.723A>C
XR_944495.1:n.723A>C
XR_944496.1:n.723A>C
XR_944497.1:n.723A>C
XM_017018791.1:c.700A>C	XP_016874280.1:p.Lys234Gln
XM_017018792.1:c.700A>C	XP_016874281.1:p.Lys234Gln
XM_017018793.1:c.550A>C	XP_016874282.1:p.Lys184Gln
XR_002957287.1:n.573A>C
XR_944496.2:n.723A>C
NM_145648.4:c.550A>C MANE Select	NP_663623.1:p.Lys184Gln