Canonical Allele Identifier: CA13607953

Gene: SLC15A4

Linked Data

• dbSNP Id: rs983492
• gnomAD v2: 12-129306121-C-T
• gnomAD v3: 12-128821576-C-T
• gnomAD v4: 12-128821576-C-T
• MyVariant Identifiers: chr12:g.129306121C>T (hg19) ; chr12:g.128821576C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128821576C>T , CM000674.2:g.128821576C>T	GRCh38
NC_000012.11:g.129306121C>T , CM000674.1:g.129306121C>T	GRCh37
NC_000012.10:g.127872074C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000266771.10:c.546+1822G>A MANE Select	ENSP00000266771.5:n.546+1822G>A
ENST00000266771.9:c.546+1822G>A	ENSP00000266771.5:n.546+1822G>A
ENST00000376740.8:c.125+1822G>A
ENST00000376744.8:c.382+1822G>A
ENST00000539703.1:n.196+1822G>A
NM_145648.3:c.546+1822G>A	NP_663623.1:n.546+1822G>A
XM_011537895.1:c.696+1672G>A	XP_011536197.1:n.696+1672G>A
XR_429081.2:n.569+1822G>A
XR_944494.1:n.719+1672G>A
XR_944495.1:n.719+1672G>A
XR_944496.1:n.719+1672G>A
XR_944497.1:n.719+1672G>A
XM_017018791.1:c.696+1672G>A	XP_016874280.1:n.696+1672G>A
XM_017018792.1:c.696+1672G>A	XP_016874281.1:n.696+1672G>A
XM_017018793.1:c.546+1822G>A	XP_016874282.1:n.546+1822G>A
XR_002957287.1:n.569+1822G>A
XR_944496.2:n.719+1672G>A
NM_145648.4:c.546+1822G>A MANE Select	NP_663623.1:n.546+1822G>A