Canonical Allele Identifier: CA6875148

Gene: SLC15A4

Linked Data

• dbSNP Id: rs781144726
• ExAC: 12:129299415 G / C
• gnomAD v2: 12-129299415-G-C
• MyVariant Identifiers: chr12:g.129299415G>C (hg19) ; chr12:g.128814870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814870G>C , CM000674.2:g.128814870G>C	GRCh38
NC_000012.11:g.129299415G>C , CM000674.1:g.129299415G>C	GRCh37
NC_000012.10:g.127865368G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.747C>G MANE Select	ENSP00000266771.5:p.Thr249=
ENST00000266771.9:c.747C>G	ENSP00000266771.5:p.Thr249=
ENST00000366292.6:n.1059C>G
ENST00000376740.8:c.326C>G
ENST00000376744.8:c.583C>G
ENST00000539703.1:n.397C>G
ENST00000614634.1:c.-96C>G	ENSP00000483143.1:n.-96C>G
NM_145648.3:c.747C>G	NP_663623.1:p.Thr249=
XM_011537895.1:c.897C>G	XP_011536197.1:p.Thr299=
XR_429081.2:n.770C>G
XR_944494.1:n.920C>G
XR_944495.1:n.920C>G
XR_944496.1:n.920C>G
XR_944497.1:n.920C>G
XM_017018791.1:c.897C>G	XP_016874280.1:p.Thr299=
XM_017018792.1:c.897C>G	XP_016874281.1:p.Thr299=
XM_017018793.1:c.747C>G	XP_016874282.1:p.Thr249=
XR_002957287.1:n.770C>G
XR_944496.2:n.920C>G
NM_145648.4:c.747C>G MANE Select	NP_663623.1:p.Thr249=