Canonical Allele Identifier: CA2635727365

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6706940-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6706940C>A , CM000679.2:g.6706940C>A	GRCh38
NC_000017.10:g.6610259C>A , CM000679.1:g.6610259C>A	GRCh37
NC_000017.9:g.6550983C>A	NCBI36
NG_034220.1:g.11482G>T , LRG_1020:g.11482G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.231+88G>T MANE Select	ENSP00000406220.2:n.231+88G>T
ENST00000293800.10:c.231+88G>T	ENSP00000293800.6:n.231+88G>T
ENST00000381074.8:c.103-162G>T	ENSP00000370464.4:n.103-162G>T
ENST00000433363.6:c.231+88G>T	ENSP00000406220.2:n.231+88G>T
ENST00000572094.1:c.227+92G>T	ENSP00000461495.1:n.227+92G>T
ENST00000572352.5:c.120+88G>T	ENSP00000461622.1:n.120+88G>T
ENST00000573648.5:c.231+88G>T	ENSP00000459372.1:n.231+88G>T
ENST00000575230.1:c.232-40G>T	ENSP00000460903.1:n.232-40G>T
ENST00000576323.1:n.261+88G>T
NM_001143838.2:c.231+88G>T	NP_001137310.1:n.231+88G>T
NM_001284509.1:c.231+88G>T	NP_001271438.1:n.231+88G>T
NM_001284510.1:c.103-162G>T	NP_001271439.1:n.103-162G>T
NM_177550.4:c.231+88G>T , LRG_1020t1:c.231+88G>T	NP_808218.1:n.231+88G>T
XM_006721504.2:c.120+88G>T	XP_006721567.1:n.120+88G>T
XM_011523795.1:c.231+88G>T	XP_011522097.1:n.231+88G>T
XM_011523795.3:c.231+88G>T	XP_011522097.1:n.231+88G>T
NM_001143838.3:c.231+88G>T	NP_001137310.1:n.231+88G>T
NM_001284509.2:c.231+88G>T	NP_001271438.1:n.231+88G>T
NM_001284510.2:c.103-162G>T	NP_001271439.1:n.103-162G>T
NM_177550.5:c.231+88G>T MANE Select	NP_808218.1:n.231+88G>T