Canonical Allele Identifier: CA8331546
Gene: SLC13A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 517770
dbSNP Id: rs756534283
gnomAD v2: 17-6599029-T-G
gnomAD v3: 17-6695710-T-G
gnomAD v4: 17-6695710-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695710T>G , CM000679.2:g.6695710T>G GRCh38
NC_000017.10:g.6599029T>G , CM000679.1:g.6599029T>G GRCh37
NC_000017.9:g.6539753T>G NCBI36
NG_034220.1:g.22712A>C , LRG_1020:g.22712A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1055+16A>C MANE Select ENSP00000406220.2:n.1055+16A>C
ENST00000293800.10:c.1004+16A>C ENSP00000293800.6:n.1004+16A>C
ENST00000381074.8:c.926+16A>C ENSP00000370464.4:n.926+16A>C
ENST00000433363.6:c.1055+16A>C ENSP00000406220.2:n.1055+16A>C
ENST00000572727.1:n.164+16A>C
ENST00000573648.5:c.1055+16A>C ENSP00000459372.1:n.1055+16A>C
ENST00000574824.5:n.2204A>C
NM_001143838.2:c.1055+16A>C NP_001137310.1:n.1055+16A>C
NM_001284509.1:c.1004+16A>C NP_001271438.1:n.1004+16A>C
NM_001284510.1:c.926+16A>C NP_001271439.1:n.926+16A>C
NM_177550.4:c.1055+16A>C , LRG_1020t1:c.1055+16A>C NP_808218.1:n.1055+16A>C
XM_006721504.2:c.944+16A>C XP_006721567.1:n.944+16A>C
XM_011523795.1:c.1055+16A>C XP_011522097.1:n.1055+16A>C
XM_011523795.3:c.1055+16A>C XP_011522097.1:n.1055+16A>C
NM_001143838.3:c.1055+16A>C NP_001137310.1:n.1055+16A>C
NM_001284509.2:c.1004+16A>C NP_001271438.1:n.1004+16A>C
NM_001284510.2:c.926+16A>C NP_001271439.1:n.926+16A>C
NM_177550.5:c.1055+16A>C MANE Select NP_808218.1:n.1055+16A>C