Canonical Allele Identifier: CA245313595

Gene: SLC15A4

Linked Data

• dbSNP Id: rs955593396
• gnomAD v3: 12-128814868-T-C
• gnomAD v4: 12-128814868-T-C
• MyVariant Identifiers: chr12:g.129299413T>C (hg19) ; chr12:g.128814868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814868T>C , CM000674.2:g.128814868T>C	GRCh38
NC_000012.11:g.129299413T>C , CM000674.1:g.129299413T>C	GRCh37
NC_000012.10:g.127865366T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.749A>G MANE Select	ENSP00000266771.5:p.Lys250Arg
ENST00000266771.9:c.749A>G	ENSP00000266771.5:p.Lys250Arg
ENST00000366292.6:n.1061A>G
ENST00000376740.8:c.328A>G
ENST00000376744.8:c.585A>G
ENST00000539703.1:n.399A>G
ENST00000614634.1:c.-94A>G	ENSP00000483143.1:n.-94A>G
NM_145648.3:c.749A>G	NP_663623.1:p.Lys250Arg
XM_011537895.1:c.899A>G	XP_011536197.1:p.Lys300Arg
XR_429081.2:n.772A>G
XR_944494.1:n.922A>G
XR_944495.1:n.922A>G
XR_944496.1:n.922A>G
XR_944497.1:n.922A>G
XM_017018791.1:c.899A>G	XP_016874280.1:p.Lys300Arg
XM_017018792.1:c.899A>G	XP_016874281.1:p.Lys300Arg
XM_017018793.1:c.749A>G	XP_016874282.1:p.Lys250Arg
XR_002957287.1:n.772A>G
XR_944496.2:n.922A>G
NM_145648.4:c.749A>G MANE Select	NP_663623.1:p.Lys250Arg