Canonical Allele Identifier: CA6875127

Gene: SLC15A4

Linked Data

• dbSNP Id: rs772892319
• ExAC: 12:129299328 C / G
• gnomAD v2: 12-129299328-C-G
• gnomAD v3: 12-128814783-C-G
• gnomAD v4: 12-128814783-C-G
• MyVariant Identifiers: chr12:g.129299328C>G (hg19) ; chr12:g.128814783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814783C>G , CM000674.2:g.128814783C>G	GRCh38
NC_000012.11:g.129299328C>G , CM000674.1:g.129299328C>G	GRCh37
NC_000012.10:g.127865281C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.834G>C MANE Select	ENSP00000266771.5:p.Gln278His
ENST00000266771.9:c.834G>C	ENSP00000266771.5:p.Gln278His
ENST00000366292.6:n.1146G>C
ENST00000376740.8:c.413G>C
ENST00000376744.8:c.670G>C
ENST00000539703.1:n.484G>C
ENST00000614634.1:c.-9G>C	ENSP00000483143.1:n.-9G>C
NM_145648.3:c.834G>C	NP_663623.1:p.Gln278His
XM_011537895.1:c.984G>C	XP_011536197.1:p.Gln328His
XR_429081.2:n.857G>C
XR_944494.1:n.1007G>C
XR_944495.1:n.1007G>C
XR_944496.1:n.1007G>C
XR_944497.1:n.1007G>C
XM_017018791.1:c.984G>C	XP_016874280.1:p.Gln328His
XM_017018792.1:c.984G>C	XP_016874281.1:p.Gln328His
XM_017018793.1:c.834G>C	XP_016874282.1:p.Gln278His
XR_002957287.1:n.857G>C
XR_944496.2:n.1007G>C
NM_145648.4:c.834G>C MANE Select	NP_663623.1:p.Gln278His