Canonical Allele Identifier: CA482838135
Gene: SLC15A4 HGNC NCBI

Linked Data

dbSNP Id: rs1238903523
MyVariant Identifiers: chr12:g.129299553G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128815008G>A , CM000674.2:g.128815008G>A GRCh38
NC_000012.11:g.129299553G>A , CM000674.1:g.129299553G>A GRCh37
NC_000012.10:g.127865506G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.609C>T MANE Select ENSP00000266771.5:p.Asn203=
ENST00000266771.9:c.609C>T ENSP00000266771.5:p.Asn203=
ENST00000366292.6:n.921C>T
ENST00000376740.8:c.188C>T
ENST00000376744.8:c.445C>T
ENST00000535272.1:n.403C>T
ENST00000539703.1:n.259C>T
NM_145648.3:c.609C>T NP_663623.1:p.Asn203=
XM_011537895.1:c.759C>T XP_011536197.1:p.Asn253=
XR_429081.2:n.632C>T
XR_944494.1:n.782C>T
XR_944495.1:n.782C>T
XR_944496.1:n.782C>T
XR_944497.1:n.782C>T
XM_017018791.1:c.759C>T XP_016874280.1:p.Asn253=
XM_017018792.1:c.759C>T XP_016874281.1:p.Asn253=
XM_017018793.1:c.609C>T XP_016874282.1:p.Asn203=
XR_002957287.1:n.632C>T
XR_944496.2:n.782C>T
NM_145648.4:c.609C>T MANE Select NP_663623.1:p.Asn203=