Canonical Allele Identifier: CA287396295

Gene: SLC13A5

Linked Data

• dbSNP Id: rs991430271
• gnomAD v2: 17-6606979-G-A
• gnomAD v3: 17-6703660-G-A
• gnomAD v4: 17-6703660-G-A
• MyVariant Identifiers: chr17:g.6606979G>A (hg19) ; chr17:g.6703660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703660G>A , CM000679.2:g.6703660G>A	GRCh38
NC_000017.10:g.6606979G>A , CM000679.1:g.6606979G>A	GRCh37
NC_000017.9:g.6547703G>A	NCBI36
NG_034220.1:g.14762C>T , LRG_1020:g.14762C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433363.7:c.547+218C>T MANE Select	ENSP00000406220.2:n.547+218C>T
ENST00000293800.10:c.496+218C>T	ENSP00000293800.6:n.496+218C>T
ENST00000381074.8:c.418+218C>T	ENSP00000370464.4:n.418+218C>T
ENST00000433363.6:c.547+218C>T	ENSP00000406220.2:n.547+218C>T
ENST00000572094.1:c.*297+218C>T	ENSP00000461495.1:n.*297+218C>T
ENST00000572352.5:c.436+218C>T	ENSP00000461622.1:n.436+218C>T
ENST00000573648.5:c.547+218C>T	ENSP00000459372.1:n.547+218C>T
ENST00000574824.5:n.1680+218C>T
NM_001143838.2:c.547+218C>T	NP_001137310.1:n.547+218C>T
NM_001284509.1:c.496+218C>T	NP_001271438.1:n.496+218C>T
NM_001284510.1:c.418+218C>T	NP_001271439.1:n.418+218C>T
NM_177550.4:c.547+218C>T , LRG_1020t1:c.547+218C>T	NP_808218.1:n.547+218C>T
XM_006721504.2:c.436+218C>T	XP_006721567.1:n.436+218C>T
XM_011523795.1:c.547+218C>T	XP_011522097.1:n.547+218C>T
XM_011523795.3:c.547+218C>T	XP_011522097.1:n.547+218C>T
NM_001143838.3:c.547+218C>T	NP_001137310.1:n.547+218C>T
NM_001284509.2:c.496+218C>T	NP_001271438.1:n.496+218C>T
NM_001284510.2:c.418+218C>T	NP_001271439.1:n.418+218C>T
NM_177550.5:c.547+218C>T MANE Select	NP_808218.1:n.547+218C>T