Canonical Allele Identifier: CA981136579

Gene: SLC13A5

Linked Data

• dbSNP Id: rs1973779305
• gnomAD v3: 17-6703650-A-G
• gnomAD v4: 17-6703650-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703650A>G , CM000679.2:g.6703650A>G	GRCh38
NC_000017.10:g.6606969A>G , CM000679.1:g.6606969A>G	GRCh37
NC_000017.9:g.6547693A>G	NCBI36
NG_034220.1:g.14772T>C , LRG_1020:g.14772T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.547+228T>C MANE Select	ENSP00000406220.2:n.547+228T>C
ENST00000293800.10:c.496+228T>C	ENSP00000293800.6:n.496+228T>C
ENST00000381074.8:c.418+228T>C	ENSP00000370464.4:n.418+228T>C
ENST00000433363.6:c.547+228T>C	ENSP00000406220.2:n.547+228T>C
ENST00000572094.1:c.*297+228T>C	ENSP00000461495.1:n.*297+228T>C
ENST00000572352.5:c.436+228T>C	ENSP00000461622.1:n.436+228T>C
ENST00000573648.5:c.547+228T>C	ENSP00000459372.1:n.547+228T>C
ENST00000574824.5:n.1680+228T>C
NM_001143838.2:c.547+228T>C	NP_001137310.1:n.547+228T>C
NM_001284509.1:c.496+228T>C	NP_001271438.1:n.496+228T>C
NM_001284510.1:c.418+228T>C	NP_001271439.1:n.418+228T>C
NM_177550.4:c.547+228T>C , LRG_1020t1:c.547+228T>C	NP_808218.1:n.547+228T>C
XM_006721504.2:c.436+228T>C	XP_006721567.1:n.436+228T>C
XM_011523795.1:c.547+228T>C	XP_011522097.1:n.547+228T>C
XM_011523795.3:c.547+228T>C	XP_011522097.1:n.547+228T>C
NM_001143838.3:c.547+228T>C	NP_001137310.1:n.547+228T>C
NM_001284509.2:c.496+228T>C	NP_001271438.1:n.496+228T>C
NM_001284510.2:c.418+228T>C	NP_001271439.1:n.418+228T>C
NM_177550.5:c.547+228T>C MANE Select	NP_808218.1:n.547+228T>C