Canonical Allele Identifier: CA9891374
Gene: SLC13A3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46583612C>T , CM000682.2:g.46583612C>T GRCh38
NC_000020.10:g.45212251C>T , CM000682.1:g.45212251C>T GRCh37
NC_000020.9:g.44645658C>T NCBI36
NG_047182.1:g.105874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279027.9:c.1179G>A MANE Select ENSP00000279027.4:p.Pro393=
ENST00000279027.8:c.1179G>A ENSP00000279027.4:p.Pro393=
ENST00000290317.9:c.1038G>A ENSP00000290317.5:p.Pro346=
ENST00000413164.6:c.1029G>A ENSP00000415852.2:p.Pro343=
ENST00000450298.5:c.667G>A
ENST00000464518.1:n.91G>A
ENST00000468915.5:c.1038G>A ENSP00000417784.1:p.Pro346=
ENST00000472148.5:c.933G>A ENSP00000420177.1:p.Pro311=
ENST00000495082.5:c.1038G>A ENSP00000419621.1:p.Pro346=
NM_001011554.2:c.1038G>A NP_001011554.1:p.Pro346=
NM_001193339.1:c.1029G>A NP_001180268.1:p.Pro343=
NM_001193340.1:c.933G>A NP_001180269.1:p.Pro311=
NM_001193342.1:c.885G>A NP_001180271.1:p.Pro295=
NM_022829.5:c.1179G>A NP_073740.2:p.Pro393=
NM_022829.6:c.1179G>A MANE Select NP_073740.2:p.Pro393=
NM_001011554.3:c.1038G>A NP_001011554.1:p.Pro346=
NM_001193339.2:c.1029G>A NP_001180268.1:p.Pro343=
NM_001193340.2:c.933G>A NP_001180269.1:p.Pro311=
NM_001193342.2:c.885G>A NP_001180271.1:p.Pro295=