Canonical Allele Identifier: CA287396271
Gene: SLC13A5 HGNC NCBI

Linked Data

dbSNP Id: rs377251253
gnomAD v2: 17-6606926-A-C
gnomAD v3: 17-6703607-A-C
gnomAD v4: 17-6703607-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6703607A>C , CM000679.2:g.6703607A>C GRCh38
NC_000017.10:g.6606926A>C , CM000679.1:g.6606926A>C GRCh37
NC_000017.9:g.6547650A>C NCBI36
NG_034220.1:g.14815T>G , LRG_1020:g.14815T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.547+271T>G MANE Select ENSP00000406220.2:n.547+271T>G
ENST00000293800.10:c.496+271T>G ENSP00000293800.6:n.496+271T>G
ENST00000381074.8:c.418+271T>G ENSP00000370464.4:n.418+271T>G
ENST00000433363.6:c.547+271T>G ENSP00000406220.2:n.547+271T>G
ENST00000572094.1:c.*297+271T>G ENSP00000461495.1:n.*297+271T>G
ENST00000572352.5:c.436+271T>G ENSP00000461622.1:n.436+271T>G
ENST00000573648.5:c.547+271T>G ENSP00000459372.1:n.547+271T>G
ENST00000574824.5:n.1680+271T>G
NM_001143838.2:c.547+271T>G NP_001137310.1:n.547+271T>G
NM_001284509.1:c.496+271T>G NP_001271438.1:n.496+271T>G
NM_001284510.1:c.418+271T>G NP_001271439.1:n.418+271T>G
NM_177550.4:c.547+271T>G , LRG_1020t1:c.547+271T>G NP_808218.1:n.547+271T>G
XM_006721504.2:c.436+271T>G XP_006721567.1:n.436+271T>G
XM_011523795.1:c.547+271T>G XP_011522097.1:n.547+271T>G
XM_011523795.3:c.547+271T>G XP_011522097.1:n.547+271T>G
NM_001143838.3:c.547+271T>G NP_001137310.1:n.547+271T>G
NM_001284509.2:c.496+271T>G NP_001271438.1:n.496+271T>G
NM_001284510.2:c.418+271T>G NP_001271439.1:n.418+271T>G
NM_177550.5:c.547+271T>G MANE Select NP_808218.1:n.547+271T>G