Canonical Allele Identifier: CA397744660

Gene: SLC13A5

Linked Data

• MyVariant Identifiers: chr17:g.6599191C>A (hg19) ; chr17:g.6695872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695872C>A , CM000679.2:g.6695872C>A	GRCh38
NC_000017.10:g.6599191C>A , CM000679.1:g.6599191C>A	GRCh37
NC_000017.9:g.6539915C>A	NCBI36
NG_034220.1:g.22550G>T , LRG_1020:g.22550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.909G>T MANE Select	ENSP00000406220.2:p.Gln303His
ENST00000293800.10:c.858G>T	ENSP00000293800.6:p.Gln286His
ENST00000381074.8:c.780G>T	ENSP00000370464.4:p.Gln260His
ENST00000433363.6:c.909G>T	ENSP00000406220.2:p.Gln303His
ENST00000572094.1:c.*659G>T	ENSP00000461495.1:n.*659G>T
ENST00000572727.1:n.18G>T
ENST00000573648.5:c.909G>T	ENSP00000459372.1:p.Gln303His
ENST00000574824.5:n.2042G>T
NM_001143838.2:c.909G>T	NP_001137310.1:p.Gln303His
NM_001284509.1:c.858G>T	NP_001271438.1:p.Gln286His
NM_001284510.1:c.780G>T	NP_001271439.1:p.Gln260His
NM_177550.4:c.909G>T , LRG_1020t1:c.909G>T	NP_808218.1:p.Gln303His
XM_006721504.2:c.798G>T	XP_006721567.1:p.Gln266His
XM_011523795.1:c.909G>T	XP_011522097.1:p.Gln303His
XM_011523795.3:c.909G>T	XP_011522097.1:p.Gln303His
NM_001143838.3:c.909G>T	NP_001137310.1:p.Gln303His
NM_001284509.2:c.858G>T	NP_001271438.1:p.Gln286His
NM_001284510.2:c.780G>T	NP_001271439.1:p.Gln260His
NM_177550.5:c.909G>T MANE Select	NP_808218.1:p.Gln303His