Canonical Allele Identifier: CA2245458818
Community Standard Title: NM_177550.5(SLC13A5):c.716+5G=
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6702965C= , CM000679.2:g.6702965C= GRCh38
NC_000017.10:g.6606284C= , CM000679.1:g.6606284C= GRCh37
NC_000017.9:g.6547008C= NCBI36
NG_034220.1:g.15457G= , LRG_1020:g.15457G=

Transcript Alleles

HGVS Amino-acid Change
NM_177550.5:c.716+5G= MANE Select NP_808218.1:n.716+5G=
ENST00000433363.7:c.716+5G= MANE Select ENSP00000406220.2:n.716+5G=
NM_001143838.2:c.716+5G= NP_001137310.1:n.716+5G=
NM_001143838.3:c.716+5G= NP_001137310.1:n.716+5G=
NM_001284509.1:c.665+5G= NP_001271438.1:n.665+5G=
NM_001284509.2:c.665+5G= NP_001271438.1:n.665+5G=
NM_001284510.1:c.587+5G= NP_001271439.1:n.587+5G=
NM_001284510.2:c.587+5G= NP_001271439.1:n.587+5G=
NM_177550.4:c.716+5G= , LRG_1020t1:c.716+5G= NP_808218.1:n.716+5G=
ENST00000293800.10:c.665+5G= ENSP00000293800.6:n.665+5G=
ENST00000381074.8:c.587+5G= ENSP00000370464.4:n.587+5G=
ENST00000433363.6:c.716+5G= ENSP00000406220.2:n.716+5G=
ENST00000572094.1:c.*466+5G= ENSP00000461495.1:n.*466+5G=
ENST00000573648.5:c.716+5G= ENSP00000459372.1:n.716+5G=
ENST00000574824.5:n.1849+5G=
XM_006721504.2:c.605+5G= XP_006721567.1:n.605+5G=
XM_011523795.1:c.716+5G= XP_011522097.1:n.716+5G=
XM_011523795.3:c.716+5G= XP_011522097.1:n.716+5G=