Canonical Allele Identifier: CA2245487540
Gene: SLC13A5 HGNC NCBI

Linked Data

dbSNP Id: rs1567617699
gnomAD v4: 17-6695714-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6695714T>A , CM000679.2:g.6695714T>A GRCh38
NC_000017.10:g.6599033T>A , CM000679.1:g.6599033T>A GRCh37
NC_000017.9:g.6539757T>A NCBI36
NG_034220.1:g.22708A>T , LRG_1020:g.22708A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.1055+12A>T MANE Select ENSP00000406220.2:n.1055+12A>T
ENST00000293800.10:c.1004+12A>T ENSP00000293800.6:n.1004+12A>T
ENST00000381074.8:c.926+12A>T ENSP00000370464.4:n.926+12A>T
ENST00000433363.6:c.1055+12A>T ENSP00000406220.2:n.1055+12A>T
ENST00000572727.1:n.164+12A>T
ENST00000573648.5:c.1055+12A>T ENSP00000459372.1:n.1055+12A>T
ENST00000574824.5:n.2200A>T
NM_001143838.2:c.1055+12A>T NP_001137310.1:n.1055+12A>T
NM_001284509.1:c.1004+12A>T NP_001271438.1:n.1004+12A>T
NM_001284510.1:c.926+12A>T NP_001271439.1:n.926+12A>T
NM_177550.4:c.1055+12A>T , LRG_1020t1:c.1055+12A>T NP_808218.1:n.1055+12A>T
XM_006721504.2:c.944+12A>T XP_006721567.1:n.944+12A>T
XM_011523795.1:c.1055+12A>T XP_011522097.1:n.1055+12A>T
XM_011523795.3:c.1055+12A>T XP_011522097.1:n.1055+12A>T
NM_001143838.3:c.1055+12A>T NP_001137310.1:n.1055+12A>T
NM_001284509.2:c.1004+12A>T NP_001271438.1:n.1004+12A>T
NM_001284510.2:c.926+12A>T NP_001271439.1:n.926+12A>T
NM_177550.5:c.1055+12A>T MANE Select NP_808218.1:n.1055+12A>T