Canonical Allele Identifier: CA387235496

Gene: SLC15A4

Linked Data

• dbSNP Id: rs751204277
• gnomAD v2: 12-129299559-G-C
• gnomAD v4: 12-128815014-G-C
• MyVariant Identifiers: chr12:g.129299559G>C (hg19) ; chr12:g.128815014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815014G>C , CM000674.2:g.128815014G>C	GRCh38
NC_000012.11:g.129299559G>C , CM000674.1:g.129299559G>C	GRCh37
NC_000012.10:g.127865512G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.603C>G MANE Select	ENSP00000266771.5:p.Ser201Arg
ENST00000266771.9:c.603C>G	ENSP00000266771.5:p.Ser201Arg
ENST00000366292.6:n.915C>G
ENST00000376740.8:c.182C>G
ENST00000376744.8:c.439C>G
ENST00000535272.1:n.397C>G
ENST00000539703.1:n.253C>G
NM_145648.3:c.603C>G	NP_663623.1:p.Ser201Arg
XM_011537895.1:c.753C>G	XP_011536197.1:p.Ser251Arg
XR_429081.2:n.626C>G
XR_944494.1:n.776C>G
XR_944495.1:n.776C>G
XR_944496.1:n.776C>G
XR_944497.1:n.776C>G
XM_017018791.1:c.753C>G	XP_016874280.1:p.Ser251Arg
XM_017018792.1:c.753C>G	XP_016874281.1:p.Ser251Arg
XM_017018793.1:c.603C>G	XP_016874282.1:p.Ser201Arg
XR_002957287.1:n.626C>G
XR_944496.2:n.776C>G
NM_145648.4:c.603C>G MANE Select	NP_663623.1:p.Ser201Arg