Canonical Allele Identifier: CA387234984

Gene: SLC15A4

Linked Data

• dbSNP Id: rs1232198695
• gnomAD v3: 12-128814844-G-A
• gnomAD v4: 12-128814844-G-A
• MyVariant Identifiers: chr12:g.129299389G>A (hg19) ; chr12:g.128814844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814844G>A , CM000674.2:g.128814844G>A	GRCh38
NC_000012.11:g.129299389G>A , CM000674.1:g.129299389G>A	GRCh37
NC_000012.10:g.127865342G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.773C>T MANE Select	ENSP00000266771.5:p.Thr258Ile
ENST00000266771.9:c.773C>T	ENSP00000266771.5:p.Thr258Ile
ENST00000366292.6:n.1085C>T
ENST00000376740.8:c.352C>T
ENST00000376744.8:c.609C>T
ENST00000539703.1:n.423C>T
ENST00000614634.1:c.-70C>T	ENSP00000483143.1:n.-70C>T
NM_145648.3:c.773C>T	NP_663623.1:p.Thr258Ile
XM_011537895.1:c.923C>T	XP_011536197.1:p.Thr308Ile
XR_429081.2:n.796C>T
XR_944494.1:n.946C>T
XR_944495.1:n.946C>T
XR_944496.1:n.946C>T
XR_944497.1:n.946C>T
XM_017018791.1:c.923C>T	XP_016874280.1:p.Thr308Ile
XM_017018792.1:c.923C>T	XP_016874281.1:p.Thr308Ile
XM_017018793.1:c.773C>T	XP_016874282.1:p.Thr258Ile
XR_002957287.1:n.796C>T
XR_944496.2:n.946C>T
NM_145648.4:c.773C>T MANE Select	NP_663623.1:p.Thr258Ile