Canonical Allele Identifier: CA387235252

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299443A>C (hg19) ; chr12:g.128814898A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814898A>C , CM000674.2:g.128814898A>C	GRCh38
NC_000012.11:g.129299443A>C , CM000674.1:g.129299443A>C	GRCh37
NC_000012.10:g.127865396A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.719T>G MANE Select	ENSP00000266771.5:p.Phe240Cys
ENST00000266771.9:c.719T>G	ENSP00000266771.5:p.Phe240Cys
ENST00000366292.6:n.1031T>G
ENST00000376740.8:c.298T>G
ENST00000376744.8:c.555T>G
ENST00000539703.1:n.369T>G
ENST00000614634.1:c.-124T>G	ENSP00000483143.1:n.-124T>G
NM_145648.3:c.719T>G	NP_663623.1:p.Phe240Cys
XM_011537895.1:c.869T>G	XP_011536197.1:p.Phe290Cys
XR_429081.2:n.742T>G
XR_944494.1:n.892T>G
XR_944495.1:n.892T>G
XR_944496.1:n.892T>G
XR_944497.1:n.892T>G
XM_017018791.1:c.869T>G	XP_016874280.1:p.Phe290Cys
XM_017018792.1:c.869T>G	XP_016874281.1:p.Phe290Cys
XM_017018793.1:c.719T>G	XP_016874282.1:p.Phe240Cys
XR_002957287.1:n.742T>G
XR_944496.2:n.892T>G
NM_145648.4:c.719T>G MANE Select	NP_663623.1:p.Phe240Cys