Canonical Allele Identifier: CA981132579

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1973551459
• gnomAD v3: 17-6695996-G-C
• gnomAD v4: 17-6695996-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695996G>C , CM000679.2:g.6695996G>C	GRCh38
NC_000017.10:g.6599315G>C , CM000679.1:g.6599315G>C	GRCh37
NC_000017.9:g.6540039G>C	NCBI36
NG_034220.1:g.22426C>G , LRG_1020:g.22426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.840-55C>G MANE Select	ENSP00000406220.2:n.840-55C>G
ENST00000293800.10:c.789-55C>G	ENSP00000293800.6:n.789-55C>G
ENST00000381074.8:c.711-55C>G	ENSP00000370464.4:n.711-55C>G
ENST00000433363.6:c.840-55C>G	ENSP00000406220.2:n.840-55C>G
ENST00000572094.1:c.*590-55C>G	ENSP00000461495.1:n.*590-55C>G
ENST00000573648.5:c.840-55C>G	ENSP00000459372.1:n.840-55C>G
ENST00000574824.5:n.1973-55C>G
NM_001143838.2:c.840-55C>G	NP_001137310.1:n.840-55C>G
NM_001284509.1:c.789-55C>G	NP_001271438.1:n.789-55C>G
NM_001284510.1:c.711-55C>G	NP_001271439.1:n.711-55C>G
NM_177550.4:c.840-55C>G , LRG_1020t1:c.840-55C>G	NP_808218.1:n.840-55C>G
XM_006721504.2:c.729-55C>G	XP_006721567.1:n.729-55C>G
XM_011523795.1:c.840-55C>G	XP_011522097.1:n.840-55C>G
XM_011523795.3:c.840-55C>G	XP_011522097.1:n.840-55C>G
NM_001143838.3:c.840-55C>G	NP_001137310.1:n.840-55C>G
NM_001284509.2:c.789-55C>G	NP_001271438.1:n.789-55C>G
NM_001284510.2:c.711-55C>G	NP_001271439.1:n.711-55C>G
NM_177550.5:c.840-55C>G MANE Select	NP_808218.1:n.840-55C>G