Canonical Allele Identifier: CA397750052

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6703951-C-A
• MyVariant Identifiers: chr17:g.6607270C>A (hg19) ; chr17:g.6703951C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703951C>A , CM000679.2:g.6703951C>A	GRCh38
NC_000017.10:g.6607270C>A , CM000679.1:g.6607270C>A	GRCh37
NC_000017.9:g.6547994C>A	NCBI36
NG_034220.1:g.14471G>T , LRG_1020:g.14471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.474G>T MANE Select	ENSP00000406220.2:p.Gln158His
ENST00000293800.10:c.423G>T	ENSP00000293800.6:p.Gln141His
ENST00000381074.8:c.345G>T	ENSP00000370464.4:p.Gln115His
ENST00000433363.6:c.474G>T	ENSP00000406220.2:p.Gln158His
ENST00000572094.1:c.*224G>T	ENSP00000461495.1:n.*224G>T
ENST00000572352.5:c.363G>T	ENSP00000461622.1:p.Gln121His
ENST00000573648.5:c.474G>T	ENSP00000459372.1:p.Gln158His
ENST00000574824.5:n.1607G>T
ENST00000576323.1:n.504G>T
NM_001143838.2:c.474G>T	NP_001137310.1:p.Gln158His
NM_001284509.1:c.423G>T	NP_001271438.1:p.Gln141His
NM_001284510.1:c.345G>T	NP_001271439.1:p.Gln115His
NM_177550.4:c.474G>T , LRG_1020t1:c.474G>T	NP_808218.1:p.Gln158His
XM_006721504.2:c.363G>T	XP_006721567.1:p.Gln121His
XM_011523795.1:c.474G>T	XP_011522097.1:p.Gln158His
XM_011523795.3:c.474G>T	XP_011522097.1:p.Gln158His
NM_001143838.3:c.474G>T	NP_001137310.1:p.Gln158His
NM_001284509.2:c.423G>T	NP_001271438.1:p.Gln141His
NM_001284510.2:c.345G>T	NP_001271439.1:p.Gln115His
NM_177550.5:c.474G>T MANE Select	NP_808218.1:p.Gln158His