Canonical Allele Identifier: CA2245463368
Gene: SLC13A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6706945G= , CM000679.2:g.6706945G= GRCh38
NC_000017.10:g.6610264G= , CM000679.1:g.6610264G= GRCh37
NC_000017.9:g.6550988G= NCBI36
NG_034220.1:g.11477C= , LRG_1020:g.11477C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.231+83C= MANE Select ENSP00000406220.2:n.231+83C=
ENST00000293800.10:c.231+83C= ENSP00000293800.6:n.231+83C=
ENST00000381074.8:c.103-167C= ENSP00000370464.4:n.103-167C=
ENST00000433363.6:c.231+83C= ENSP00000406220.2:n.231+83C=
ENST00000572094.1:c.227+87C= ENSP00000461495.1:n.227+87C=
ENST00000572352.5:c.120+83C= ENSP00000461622.1:n.120+83C=
ENST00000573648.5:c.231+83C= ENSP00000459372.1:n.231+83C=
ENST00000575230.1:c.232-45C= ENSP00000460903.1:n.232-45C=
ENST00000576323.1:n.261+83C=
NM_001143838.2:c.231+83C= NP_001137310.1:n.231+83C=
NM_001284509.1:c.231+83C= NP_001271438.1:n.231+83C=
NM_001284510.1:c.103-167C= NP_001271439.1:n.103-167C=
NM_177550.4:c.231+83C= , LRG_1020t1:c.231+83C= NP_808218.1:n.231+83C=
XM_006721504.2:c.120+83C= XP_006721567.1:n.120+83C=
XM_011523795.1:c.231+83C= XP_011522097.1:n.231+83C=
XM_011523795.3:c.231+83C= XP_011522097.1:n.231+83C=
NM_001143838.3:c.231+83C= NP_001137310.1:n.231+83C=
NM_001284509.2:c.231+83C= NP_001271438.1:n.231+83C=
NM_001284510.2:c.103-167C= NP_001271439.1:n.103-167C=
NM_177550.5:c.231+83C= MANE Select NP_808218.1:n.231+83C=