Canonical Allele Identifier: CA387235571

Gene: SLC15A4

Linked Data

• gnomAD v4: 12-128815042-C-A
• MyVariant Identifiers: chr12:g.129299587C>A (hg19) ; chr12:g.128815042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815042C>A , CM000674.2:g.128815042C>A	GRCh38
NC_000012.11:g.129299587C>A , CM000674.1:g.129299587C>A	GRCh37
NC_000012.10:g.127865540C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.575G>T MANE Select	ENSP00000266771.5:p.Arg192Met
ENST00000266771.9:c.575G>T	ENSP00000266771.5:p.Arg192Met
ENST00000366292.6:n.887G>T
ENST00000376740.8:c.154G>T
ENST00000376744.8:c.411G>T
ENST00000535272.1:n.369G>T
ENST00000539703.1:n.225G>T
NM_145648.3:c.575G>T	NP_663623.1:p.Arg192Met
XM_011537895.1:c.725G>T	XP_011536197.1:p.Arg242Met
XR_429081.2:n.598G>T
XR_944494.1:n.748G>T
XR_944495.1:n.748G>T
XR_944496.1:n.748G>T
XR_944497.1:n.748G>T
XM_017018791.1:c.725G>T	XP_016874280.1:p.Arg242Met
XM_017018792.1:c.725G>T	XP_016874281.1:p.Arg242Met
XM_017018793.1:c.575G>T	XP_016874282.1:p.Arg192Met
XR_002957287.1:n.598G>T
XR_944496.2:n.748G>T
NM_145648.4:c.575G>T MANE Select	NP_663623.1:p.Arg192Met