Canonical Allele Identifier: CA497596632

Gene: SLC13A5

Linked Data

• ClinVar Variation Id: 512900
• ClinVar RCV Id: RCV000606094 ; RCV002473070
• dbSNP Id: rs1336828226
• gnomAD v2: 17-6607342-G-A
• gnomAD v3: 17-6704023-G-A
• gnomAD v4: 17-6704023-G-A
• MyVariant Identifiers: chr17:g.6607342G>A (hg19) ; chr17:g.6704023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6704023G>A , CM000679.2:g.6704023G>A	GRCh38
NC_000017.10:g.6607342G>A , CM000679.1:g.6607342G>A	GRCh37
NC_000017.9:g.6548066G>A	NCBI36
NG_034220.1:g.14399C>T , LRG_1020:g.14399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.402C>T MANE Select	ENSP00000406220.2:p.Leu134=
ENST00000293800.10:c.369-18C>T	ENSP00000293800.6:n.369-18C>T
ENST00000381074.8:c.273C>T	ENSP00000370464.4:p.Leu91=
ENST00000433363.6:c.402C>T	ENSP00000406220.2:p.Leu134=
ENST00000572094.1:c.*152C>T	ENSP00000461495.1:n.*152C>T
ENST00000572352.5:c.291C>T	ENSP00000461622.1:p.Leu97=
ENST00000573648.5:c.402C>T	ENSP00000459372.1:p.Leu134=
ENST00000574824.5:n.1535C>T
ENST00000576323.1:n.432C>T
NM_001143838.2:c.402C>T	NP_001137310.1:p.Leu134=
NM_001284509.1:c.369-18C>T	NP_001271438.1:n.369-18C>T
NM_001284510.1:c.273C>T	NP_001271439.1:p.Leu91=
NM_177550.4:c.402C>T , LRG_1020t1:c.402C>T	NP_808218.1:p.Leu134=
XM_006721504.2:c.291C>T	XP_006721567.1:p.Leu97=
XM_011523795.1:c.402C>T	XP_011522097.1:p.Leu134=
XM_011523795.3:c.402C>T	XP_011522097.1:p.Leu134=
NM_001143838.3:c.402C>T	NP_001137310.1:p.Leu134=
NM_001284509.2:c.369-18C>T	NP_001271438.1:n.369-18C>T
NM_001284510.2:c.273C>T	NP_001271439.1:p.Leu91=
NM_177550.5:c.402C>T MANE Select	NP_808218.1:p.Leu134=