Canonical Allele Identifier: CA2635729060

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6702932-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6702932C>G , CM000679.2:g.6702932C>G	GRCh38
NC_000017.10:g.6606251C>G , CM000679.1:g.6606251C>G	GRCh37
NC_000017.9:g.6546975C>G	NCBI36
NG_034220.1:g.15490G>C , LRG_1020:g.15490G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.716+38G>C MANE Select	ENSP00000406220.2:n.716+38G>C
ENST00000293800.10:c.665+38G>C	ENSP00000293800.6:n.665+38G>C
ENST00000381074.8:c.587+38G>C	ENSP00000370464.4:n.587+38G>C
ENST00000433363.6:c.716+38G>C	ENSP00000406220.2:n.716+38G>C
ENST00000572094.1:c.*466+38G>C	ENSP00000461495.1:n.*466+38G>C
ENST00000573648.5:c.716+38G>C	ENSP00000459372.1:n.716+38G>C
ENST00000574824.5:n.1849+38G>C
NM_001143838.2:c.716+38G>C	NP_001137310.1:n.716+38G>C
NM_001284509.1:c.665+38G>C	NP_001271438.1:n.665+38G>C
NM_001284510.1:c.587+38G>C	NP_001271439.1:n.587+38G>C
NM_177550.4:c.716+38G>C , LRG_1020t1:c.716+38G>C	NP_808218.1:n.716+38G>C
XM_006721504.2:c.605+38G>C	XP_006721567.1:n.605+38G>C
XM_011523795.1:c.716+38G>C	XP_011522097.1:n.716+38G>C
XM_011523795.3:c.716+38G>C	XP_011522097.1:n.716+38G>C
NM_001143838.3:c.716+38G>C	NP_001137310.1:n.716+38G>C
NM_001284509.2:c.665+38G>C	NP_001271438.1:n.665+38G>C
NM_001284510.2:c.587+38G>C	NP_001271439.1:n.587+38G>C
NM_177550.5:c.716+38G>C MANE Select	NP_808218.1:n.716+38G>C