Canonical Allele Identifier: CA287388259

Gene: SLC13A5

Linked Data

• dbSNP Id: rs761215437
• gnomAD v2: 17-6599238-C-G
• gnomAD v4: 17-6695919-C-G
• MyVariant Identifiers: chr17:g.6599238C>G (hg19) ; chr17:g.6695919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695919C>G , CM000679.2:g.6695919C>G	GRCh38
NC_000017.10:g.6599238C>G , CM000679.1:g.6599238C>G	GRCh37
NC_000017.9:g.6539962C>G	NCBI36
NG_034220.1:g.22503G>C , LRG_1020:g.22503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.862G>C MANE Select	ENSP00000406220.2:p.Gly288Arg
ENST00000293800.10:c.811G>C	ENSP00000293800.6:p.Gly271Arg
ENST00000381074.8:c.733G>C	ENSP00000370464.4:p.Gly245Arg
ENST00000433363.6:c.862G>C	ENSP00000406220.2:p.Gly288Arg
ENST00000572094.1:c.*612G>C	ENSP00000461495.1:n.*612G>C
ENST00000573648.5:c.862G>C	ENSP00000459372.1:p.Gly288Arg
ENST00000574824.5:n.1995G>C
NM_001143838.2:c.862G>C	NP_001137310.1:p.Gly288Arg
NM_001284509.1:c.811G>C	NP_001271438.1:p.Gly271Arg
NM_001284510.1:c.733G>C	NP_001271439.1:p.Gly245Arg
NM_177550.4:c.862G>C , LRG_1020t1:c.862G>C	NP_808218.1:p.Gly288Arg
XM_006721504.2:c.751G>C	XP_006721567.1:p.Gly251Arg
XM_011523795.1:c.862G>C	XP_011522097.1:p.Gly288Arg
XM_011523795.3:c.862G>C	XP_011522097.1:p.Gly288Arg
NM_001143838.3:c.862G>C	NP_001137310.1:p.Gly288Arg
NM_001284509.2:c.811G>C	NP_001271438.1:p.Gly271Arg
NM_001284510.2:c.733G>C	NP_001271439.1:p.Gly245Arg
NM_177550.5:c.862G>C MANE Select	NP_808218.1:p.Gly288Arg