Canonical Allele Identifier: CA482838149

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299592G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815047G>C , CM000674.2:g.128815047G>C	GRCh38
NC_000012.11:g.129299592G>C , CM000674.1:g.129299592G>C	GRCh37
NC_000012.10:g.127865545G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.570C>G MANE Select	ENSP00000266771.5:p.Ala190=
ENST00000266771.9:c.570C>G	ENSP00000266771.5:p.Ala190=
ENST00000366292.6:n.882C>G
ENST00000376740.8:c.149C>G
ENST00000376744.8:c.406C>G
ENST00000535272.1:n.364C>G
ENST00000539703.1:n.220C>G
NM_145648.3:c.570C>G	NP_663623.1:p.Ala190=
XM_011537895.1:c.720C>G	XP_011536197.1:p.Ala240=
XR_429081.2:n.593C>G
XR_944494.1:n.743C>G
XR_944495.1:n.743C>G
XR_944496.1:n.743C>G
XR_944497.1:n.743C>G
XM_017018791.1:c.720C>G	XP_016874280.1:p.Ala240=
XM_017018792.1:c.720C>G	XP_016874281.1:p.Ala240=
XM_017018793.1:c.570C>G	XP_016874282.1:p.Ala190=
XR_002957287.1:n.593C>G
XR_944496.2:n.743C>G
NM_145648.4:c.570C>G MANE Select	NP_663623.1:p.Ala190=