Canonical Allele Identifier: CA387235421

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299522C>G (hg19) ; chr12:g.128814977C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814977C>G , CM000674.2:g.128814977C>G	GRCh38
NC_000012.11:g.129299522C>G , CM000674.1:g.129299522C>G	GRCh37
NC_000012.10:g.127865475C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.640G>C MANE Select	ENSP00000266771.5:p.Ala214Pro
ENST00000266771.9:c.640G>C	ENSP00000266771.5:p.Ala214Pro
ENST00000366292.6:n.952G>C
ENST00000376740.8:c.219G>C
ENST00000376744.8:c.476G>C
ENST00000535272.1:n.434G>C
ENST00000539703.1:n.290G>C
NM_145648.3:c.640G>C	NP_663623.1:p.Ala214Pro
XM_011537895.1:c.790G>C	XP_011536197.1:p.Ala264Pro
XR_429081.2:n.663G>C
XR_944494.1:n.813G>C
XR_944495.1:n.813G>C
XR_944496.1:n.813G>C
XR_944497.1:n.813G>C
XM_017018791.1:c.790G>C	XP_016874280.1:p.Ala264Pro
XM_017018792.1:c.790G>C	XP_016874281.1:p.Ala264Pro
XM_017018793.1:c.640G>C	XP_016874282.1:p.Ala214Pro
XR_002957287.1:n.663G>C
XR_944496.2:n.813G>C
NM_145648.4:c.640G>C MANE Select	NP_663623.1:p.Ala214Pro