Canonical Allele Identifier: CA2635727833
Gene: SLC13A5 HGNC NCBI

Linked Data

gnomAD v4: 17-6707227-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6707227G>A , CM000679.2:g.6707227G>A GRCh38
NC_000017.10:g.6610546G>A , CM000679.1:g.6610546G>A GRCh37
NC_000017.9:g.6551270G>A NCBI36
NG_034220.1:g.11195C>T , LRG_1020:g.11195C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.103-71C>T MANE Select ENSP00000406220.2:n.103-71C>T
ENST00000293800.10:c.103-71C>T ENSP00000293800.6:n.103-71C>T
ENST00000381074.8:c.103-449C>T ENSP00000370464.4:n.103-449C>T
ENST00000433363.6:c.103-71C>T ENSP00000406220.2:n.103-71C>T
ENST00000572094.1:c.103-71C>T ENSP00000461495.1:n.103-71C>T
ENST00000572352.5:c.103-182C>T ENSP00000461622.1:n.103-182C>T
ENST00000573648.5:c.103-71C>T ENSP00000459372.1:n.103-71C>T
ENST00000575230.1:c.103-71C>T ENSP00000460903.1:n.103-71C>T
ENST00000576323.1:n.141-79C>T
NM_001143838.2:c.103-71C>T NP_001137310.1:n.103-71C>T
NM_001284509.1:c.103-71C>T NP_001271438.1:n.103-71C>T
NM_001284510.1:c.103-449C>T NP_001271439.1:n.103-449C>T
NM_177550.4:c.103-71C>T , LRG_1020t1:c.103-71C>T NP_808218.1:n.103-71C>T
XM_006721504.2:c.103-182C>T XP_006721567.1:n.103-182C>T
XM_011523795.1:c.103-71C>T XP_011522097.1:n.103-71C>T
XM_011523795.3:c.103-71C>T XP_011522097.1:n.103-71C>T
NM_001143838.3:c.103-71C>T NP_001137310.1:n.103-71C>T
NM_001284509.2:c.103-71C>T NP_001271438.1:n.103-71C>T
NM_001284510.2:c.103-449C>T NP_001271439.1:n.103-449C>T
NM_177550.5:c.103-71C>T MANE Select NP_808218.1:n.103-71C>T