Canonical Allele Identifier: CA2635728337

Gene: SLC13A5

Linked Data

• dbSNP Id: rs2151487494
• gnomAD v4: 17-6696022-A-AGCAGAATGTAGCAAAAAGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6696023_6696042dup , CM000679.2:g.6696023_6696042dup	GRCh38
NC_000017.10:g.6599342_6599361dup , CM000679.1:g.6599342_6599361dup	GRCh37
NC_000017.9:g.6540066_6540085dup	NCBI36
NG_034220.1:g.22380_22399dup , LRG_1020:g.22380_22399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-101_840-82dup MANE Select	ENSP00000406220.2:n.840-101_840-82dup
ENST00000293800.10:c.789-101_789-82dup	ENSP00000293800.6:n.789-101_789-82dup
ENST00000381074.8:c.711-101_711-82dup	ENSP00000370464.4:n.711-101_711-82dup
ENST00000433363.6:c.840-101_840-82dup	ENSP00000406220.2:n.840-101_840-82dup
ENST00000572094.1:c.*590-101_*590-82dup	ENSP00000461495.1:n.*590-101_*590-82dup
ENST00000573648.5:c.840-101_840-82dup	ENSP00000459372.1:n.840-101_840-82dup
ENST00000574824.5:n.1973-101_1973-82dup
NM_001143838.2:c.840-101_840-82dup	NP_001137310.1:n.840-101_840-82dup
NM_001284509.1:c.789-101_789-82dup	NP_001271438.1:n.789-101_789-82dup
NM_001284510.1:c.711-101_711-82dup	NP_001271439.1:n.711-101_711-82dup
NM_177550.4:c.840-101_840-82dup , LRG_1020t1:c.840-101_840-82dup	NP_808218.1:n.840-101_840-82dup
XM_006721504.2:c.729-101_729-82dup	XP_006721567.1:n.729-101_729-82dup
XM_011523795.1:c.840-101_840-82dup	XP_011522097.1:n.840-101_840-82dup
XM_011523795.3:c.840-101_840-82dup	XP_011522097.1:n.840-101_840-82dup
NM_001143838.3:c.840-101_840-82dup	NP_001137310.1:n.840-101_840-82dup
NM_001284509.2:c.789-101_789-82dup	NP_001271438.1:n.789-101_789-82dup
NM_001284510.2:c.711-101_711-82dup	NP_001271439.1:n.711-101_711-82dup
NM_177550.5:c.840-101_840-82dup MANE Select	NP_808218.1:n.840-101_840-82dup