Canonical Allele Identifier: CA245313620

Gene: SLC15A4

Linked Data

• dbSNP Id: rs201921716
• gnomAD v2: 12-129299466-G-C
• gnomAD v3: 12-128814921-G-C
• gnomAD v4: 12-128814921-G-C
• MyVariant Identifiers: chr12:g.129299466G>C (hg19) ; chr12:g.128814921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128814921G>C , CM000674.2:g.128814921G>C	GRCh38
NC_000012.11:g.129299466G>C , CM000674.1:g.129299466G>C	GRCh37
NC_000012.10:g.127865419G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.696C>G MANE Select	ENSP00000266771.5:p.Cys232Trp
ENST00000266771.9:c.696C>G	ENSP00000266771.5:p.Cys232Trp
ENST00000366292.6:n.1008C>G
ENST00000376740.8:c.275C>G
ENST00000376744.8:c.532C>G
ENST00000539703.1:n.346C>G
ENST00000614634.1:c.-147C>G	ENSP00000483143.1:n.-147C>G
NM_145648.3:c.696C>G	NP_663623.1:p.Cys232Trp
XM_011537895.1:c.846C>G	XP_011536197.1:p.Cys282Trp
XR_429081.2:n.719C>G
XR_944494.1:n.869C>G
XR_944495.1:n.869C>G
XR_944496.1:n.869C>G
XR_944497.1:n.869C>G
XM_017018791.1:c.846C>G	XP_016874280.1:p.Cys282Trp
XM_017018792.1:c.846C>G	XP_016874281.1:p.Cys282Trp
XM_017018793.1:c.696C>G	XP_016874282.1:p.Cys232Trp
XR_002957287.1:n.719C>G
XR_944496.2:n.869C>G
NM_145648.4:c.696C>G MANE Select	NP_663623.1:p.Cys232Trp