Canonical Allele Identifier: CA2576144217
Gene: SLC13A5 HGNC NCBI

Linked Data

gnomAD v4: 17-6696026-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6696026G>T , CM000679.2:g.6696026G>T GRCh38
NC_000017.10:g.6599345G>T , CM000679.1:g.6599345G>T GRCh37
NC_000017.9:g.6540069G>T NCBI36
NG_034220.1:g.22396C>A , LRG_1020:g.22396C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.840-85C>A MANE Select ENSP00000406220.2:n.840-85C>A
ENST00000293800.10:c.789-85C>A ENSP00000293800.6:n.789-85C>A
ENST00000381074.8:c.711-85C>A ENSP00000370464.4:n.711-85C>A
ENST00000433363.6:c.840-85C>A ENSP00000406220.2:n.840-85C>A
ENST00000572094.1:c.*590-85C>A ENSP00000461495.1:n.*590-85C>A
ENST00000573648.5:c.840-85C>A ENSP00000459372.1:n.840-85C>A
ENST00000574824.5:n.1973-85C>A
NM_001143838.2:c.840-85C>A NP_001137310.1:n.840-85C>A
NM_001284509.1:c.789-85C>A NP_001271438.1:n.789-85C>A
NM_001284510.1:c.711-85C>A NP_001271439.1:n.711-85C>A
NM_177550.4:c.840-85C>A , LRG_1020t1:c.840-85C>A NP_808218.1:n.840-85C>A
XM_006721504.2:c.729-85C>A XP_006721567.1:n.729-85C>A
XM_011523795.1:c.840-85C>A XP_011522097.1:n.840-85C>A
XM_011523795.3:c.840-85C>A XP_011522097.1:n.840-85C>A
NM_001143838.3:c.840-85C>A NP_001137310.1:n.840-85C>A
NM_001284509.2:c.789-85C>A NP_001271438.1:n.789-85C>A
NM_001284510.2:c.711-85C>A NP_001271439.1:n.711-85C>A
NM_177550.5:c.840-85C>A MANE Select NP_808218.1:n.840-85C>A