Canonical Allele Identifier: CA482838030

Gene: SLC15A4

Linked Data

• gnomAD v4: 12-128814849-G-C
• MyVariant Identifiers: chr12:g.129299394G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814849G>C , CM000674.2:g.128814849G>C	GRCh38
NC_000012.11:g.129299394G>C , CM000674.1:g.129299394G>C	GRCh37
NC_000012.10:g.127865347G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.768C>G MANE Select	ENSP00000266771.5:p.Ala256=
ENST00000266771.9:c.768C>G	ENSP00000266771.5:p.Ala256=
ENST00000366292.6:n.1080C>G
ENST00000376740.8:c.347C>G
ENST00000376744.8:c.604C>G
ENST00000539703.1:n.418C>G
ENST00000614634.1:c.-75C>G	ENSP00000483143.1:n.-75C>G
NM_145648.3:c.768C>G	NP_663623.1:p.Ala256=
XM_011537895.1:c.918C>G	XP_011536197.1:p.Ala306=
XR_429081.2:n.791C>G
XR_944494.1:n.941C>G
XR_944495.1:n.941C>G
XR_944496.1:n.941C>G
XR_944497.1:n.941C>G
XM_017018791.1:c.918C>G	XP_016874280.1:p.Ala306=
XM_017018792.1:c.918C>G	XP_016874281.1:p.Ala306=
XM_017018793.1:c.768C>G	XP_016874282.1:p.Ala256=
XR_002957287.1:n.791C>G
XR_944496.2:n.941C>G
NM_145648.4:c.768C>G MANE Select	NP_663623.1:p.Ala256=