Canonical Allele Identifier: CA6875120

Gene: SLC15A4

Linked Data

• dbSNP Id: rs757849332
• ExAC: 12:129299278 A / G
• gnomAD v2: 12-129299278-A-G
• gnomAD v4: 12-128814733-A-G
• MyVariant Identifiers: chr12:g.129299278A>G (hg19) ; chr12:g.128814733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814733A>G , CM000674.2:g.128814733A>G	GRCh38
NC_000012.11:g.129299278A>G , CM000674.1:g.129299278A>G	GRCh37
NC_000012.10:g.127865231A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.842+42T>C MANE Select	ENSP00000266771.5:n.842+42T>C
ENST00000266771.9:c.842+42T>C	ENSP00000266771.5:n.842+42T>C
ENST00000366292.6:n.1154+42T>C
ENST00000376740.8:c.421+42T>C
ENST00000376744.8:c.678+42T>C
ENST00000539703.1:n.492+42T>C
ENST00000614634.1:c.-1+42T>C	ENSP00000483143.1:n.-1+42T>C
NM_145648.3:c.842+42T>C	NP_663623.1:n.842+42T>C
XM_011537895.1:c.992+42T>C	XP_011536197.1:n.992+42T>C
XR_429081.2:n.865+42T>C
XR_944494.1:n.1015+42T>C
XR_944495.1:n.1015+42T>C
XR_944496.1:n.1015+42T>C
XR_944497.1:n.1015+42T>C
XM_017018791.1:c.992+42T>C	XP_016874280.1:n.992+42T>C
XM_017018792.1:c.992+42T>C	XP_016874281.1:n.992+42T>C
XM_017018793.1:c.842+42T>C	XP_016874282.1:n.842+42T>C
XR_002957287.1:n.865+42T>C
XR_944496.2:n.1015+42T>C
NM_145648.4:c.842+42T>C MANE Select	NP_663623.1:n.842+42T>C