Canonical Allele Identifier: CA6875176

Gene: SLC15A4

Linked Data

• dbSNP Id: rs766939078
• ExAC: 12:129299540 G / A
• gnomAD v2: 12-129299540-G-A
• gnomAD v3: 12-128814995-G-A
• gnomAD v4: 12-128814995-G-A
• MyVariant Identifiers: chr12:g.129299540G>A (hg19) ; chr12:g.128814995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814995G>A , CM000674.2:g.128814995G>A	GRCh38
NC_000012.11:g.129299540G>A , CM000674.1:g.129299540G>A	GRCh37
NC_000012.10:g.127865493G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.622C>T MANE Select	ENSP00000266771.5:p.Leu208=
ENST00000266771.9:c.622C>T	ENSP00000266771.5:p.Leu208=
ENST00000366292.6:n.934C>T
ENST00000376740.8:c.201C>T
ENST00000376744.8:c.458C>T
ENST00000535272.1:n.416C>T
ENST00000539703.1:n.272C>T
NM_145648.3:c.622C>T	NP_663623.1:p.Leu208=
XM_011537895.1:c.772C>T	XP_011536197.1:p.Leu258=
XR_429081.2:n.645C>T
XR_944494.1:n.795C>T
XR_944495.1:n.795C>T
XR_944496.1:n.795C>T
XR_944497.1:n.795C>T
XM_017018791.1:c.772C>T	XP_016874280.1:p.Leu258=
XM_017018792.1:c.772C>T	XP_016874281.1:p.Leu258=
XM_017018793.1:c.622C>T	XP_016874282.1:p.Leu208=
XR_002957287.1:n.645C>T
XR_944496.2:n.795C>T
NM_145648.4:c.622C>T MANE Select	NP_663623.1:p.Leu208=