Canonical Allele Identifier: CA397752058
Gene: SLC13A5 HGNC NCBI

Linked Data

gnomAD v4: 17-6707148-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6707148C>A , CM000679.2:g.6707148C>A GRCh38
NC_000017.10:g.6610467C>A , CM000679.1:g.6610467C>A GRCh37
NC_000017.9:g.6551191C>A NCBI36
NG_034220.1:g.11274G>T , LRG_1020:g.11274G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.111G>T MANE Select ENSP00000406220.2:p.Arg37Ser
ENST00000293800.10:c.111G>T ENSP00000293800.6:p.Arg37Ser
ENST00000381074.8:c.103-370G>T ENSP00000370464.4:n.103-370G>T
ENST00000433363.6:c.111G>T ENSP00000406220.2:p.Arg37Ser
ENST00000572094.1:c.111G>T ENSP00000461495.1:p.Arg37Ser
ENST00000572352.5:c.103-103G>T ENSP00000461622.1:n.103-103G>T
ENST00000573648.5:c.111G>T ENSP00000459372.1:p.Arg37Ser
ENST00000575230.1:c.111G>T ENSP00000460903.1:p.Arg37Ser
ENST00000576323.1:n.141G>T
NM_001143838.2:c.111G>T NP_001137310.1:p.Arg37Ser
NM_001284509.1:c.111G>T NP_001271438.1:p.Arg37Ser
NM_001284510.1:c.103-370G>T NP_001271439.1:n.103-370G>T
NM_177550.4:c.111G>T , LRG_1020t1:c.111G>T NP_808218.1:p.Arg37Ser
XM_006721504.2:c.103-103G>T XP_006721567.1:n.103-103G>T
XM_011523795.1:c.111G>T XP_011522097.1:p.Arg37Ser
XM_011523795.3:c.111G>T XP_011522097.1:p.Arg37Ser
NM_001143838.3:c.111G>T NP_001137310.1:p.Arg37Ser
NM_001284509.2:c.111G>T NP_001271438.1:p.Arg37Ser
NM_001284510.2:c.103-370G>T NP_001271439.1:n.103-370G>T
NM_177550.5:c.111G>T MANE Select NP_808218.1:p.Arg37Ser