Canonical Allele Identifier: CA6875135

Gene: SLC15A4

Linked Data

• dbSNP Id: rs767108406
• ExAC: 12:129299356 C / T
• gnomAD v2: 12-129299356-C-T
• gnomAD v4: 12-128814811-C-T
• MyVariant Identifiers: chr12:g.129299356C>T (hg19) ; chr12:g.128814811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814811C>T , CM000674.2:g.128814811C>T	GRCh38
NC_000012.11:g.129299356C>T , CM000674.1:g.129299356C>T	GRCh37
NC_000012.10:g.127865309C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.806G>A MANE Select	ENSP00000266771.5:p.Cys269Tyr
ENST00000266771.9:c.806G>A	ENSP00000266771.5:p.Cys269Tyr
ENST00000366292.6:n.1118G>A
ENST00000376740.8:c.385G>A
ENST00000376744.8:c.642G>A
ENST00000539703.1:n.456G>A
ENST00000614634.1:c.-37G>A	ENSP00000483143.1:n.-37G>A
NM_145648.3:c.806G>A	NP_663623.1:p.Cys269Tyr
XM_011537895.1:c.956G>A	XP_011536197.1:p.Cys319Tyr
XR_429081.2:n.829G>A
XR_944494.1:n.979G>A
XR_944495.1:n.979G>A
XR_944496.1:n.979G>A
XR_944497.1:n.979G>A
XM_017018791.1:c.956G>A	XP_016874280.1:p.Cys319Tyr
XM_017018792.1:c.956G>A	XP_016874281.1:p.Cys319Tyr
XM_017018793.1:c.806G>A	XP_016874282.1:p.Cys269Tyr
XR_002957287.1:n.829G>A
XR_944496.2:n.979G>A
NM_145648.4:c.806G>A MANE Select	NP_663623.1:p.Cys269Tyr