Canonical Allele Identifier: CA608509518

Gene: SLC15A4

Linked Data

• dbSNP Id: rs2306683
• gnomAD v2: 12-129299675-C-A
• gnomAD v3: 12-128815130-C-A
• gnomAD v4: 12-128815130-C-A
• MyVariant Identifiers: chr12:g.129299675C>A (hg19) ; chr12:g.128815130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815130C>A , CM000674.2:g.128815130C>A	GRCh38
NC_000012.11:g.129299675C>A , CM000674.1:g.129299675C>A	GRCh37
NC_000012.10:g.127865628C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.547-60G>T MANE Select	ENSP00000266771.5:n.547-60G>T
ENST00000266771.9:c.547-60G>T	ENSP00000266771.5:n.547-60G>T
ENST00000366292.6:n.799G>T
ENST00000376740.8:c.126-60G>T
ENST00000376744.8:c.383-60G>T
ENST00000535272.1:n.341-60G>T
ENST00000539703.1:n.197-60G>T
NM_145648.3:c.547-60G>T	NP_663623.1:n.547-60G>T
XM_011537895.1:c.697-60G>T	XP_011536197.1:n.697-60G>T
XR_429081.2:n.570-60G>T
XR_944494.1:n.720-60G>T
XR_944495.1:n.720-60G>T
XR_944496.1:n.720-60G>T
XR_944497.1:n.720-60G>T
XM_017018791.1:c.697-60G>T	XP_016874280.1:n.697-60G>T
XM_017018792.1:c.697-60G>T	XP_016874281.1:n.697-60G>T
XM_017018793.1:c.547-60G>T	XP_016874282.1:n.547-60G>T
XR_002957287.1:n.570-60G>T
XR_944496.2:n.720-60G>T
NM_145648.4:c.547-60G>T MANE Select	NP_663623.1:n.547-60G>T