Canonical Allele Identifier: CA409270113

Gene: SLC13A3

Linked Data

• gnomAD v4: 20-46613616-C-G
• COSMIC: COSM5678539 ; COSM5678540 ; COSM5678541
• MyVariant Identifiers: chr20:g.45242255C>G (hg19) ; chr20:g.46613616C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46613616C>G , CM000682.2:g.46613616C>G	GRCh38
NC_000020.10:g.45242255C>G , CM000682.1:g.45242255C>G	GRCh37
NC_000020.9:g.44675662C>G	NCBI36
NG_047182.1:g.75870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279027.9:c.221G>C MANE Select	ENSP00000279027.4:p.Gly74Ala
ENST00000279027.8:c.221G>C	ENSP00000279027.4:p.Gly74Ala
ENST00000290317.9:c.80G>C	ENSP00000290317.5:p.Gly27Ala
ENST00000372121.5:c.80G>C	ENSP00000361193.2:p.Gly27Ala
ENST00000413164.6:c.221G>C	ENSP00000415852.2:p.Gly74Ala
ENST00000417157.2:c.80G>C	ENSP00000397955.2:p.Gly27Ala
ENST00000420568.5:c.110G>C	ENSP00000395095.1:p.Gly37Ala
ENST00000468915.5:c.80G>C	ENSP00000417784.1:p.Gly27Ala
ENST00000472148.5:c.80G>C	ENSP00000420177.1:p.Gly27Ala
ENST00000495082.5:c.80G>C	ENSP00000419621.1:p.Gly27Ala
NM_001011554.2:c.80G>C	NP_001011554.1:p.Gly27Ala
NM_001193339.1:c.221G>C	NP_001180268.1:p.Gly74Ala
NM_001193340.1:c.80G>C	NP_001180269.1:p.Gly27Ala
NM_001193342.1:c.-10-64G>C	NP_001180271.1:n.-10-64G>C
NM_022829.5:c.221G>C	NP_073740.2:p.Gly74Ala
NM_022829.6:c.221G>C MANE Select	NP_073740.2:p.Gly74Ala
NM_001011554.3:c.80G>C	NP_001011554.1:p.Gly27Ala
NM_001193339.2:c.221G>C	NP_001180268.1:p.Gly74Ala
NM_001193340.2:c.80G>C	NP_001180269.1:p.Gly27Ala
NM_001193342.2:c.-10-64G>C	NP_001180271.1:n.-10-64G>C