Canonical Allele Identifier: CA397750108

Gene: SLC13A5

Linked Data

• COSMIC: COSM3521243
• MyVariant Identifiers: chr17:g.6607295G>A (hg19) ; chr17:g.6703976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6703976G>A , CM000679.2:g.6703976G>A	GRCh38
NC_000017.10:g.6607295G>A , CM000679.1:g.6607295G>A	GRCh37
NC_000017.9:g.6548019G>A	NCBI36
NG_034220.1:g.14446C>T , LRG_1020:g.14446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.449C>T MANE Select	ENSP00000406220.2:p.Pro150Leu
ENST00000293800.10:c.398C>T	ENSP00000293800.6:p.Pro133Leu
ENST00000381074.8:c.320C>T	ENSP00000370464.4:p.Pro107Leu
ENST00000433363.6:c.449C>T	ENSP00000406220.2:p.Pro150Leu
ENST00000572094.1:c.*199C>T	ENSP00000461495.1:n.*199C>T
ENST00000572352.5:c.338C>T	ENSP00000461622.1:p.Pro113Leu
ENST00000573648.5:c.449C>T	ENSP00000459372.1:p.Pro150Leu
ENST00000574824.5:n.1582C>T
ENST00000576323.1:n.479C>T
NM_001143838.2:c.449C>T	NP_001137310.1:p.Pro150Leu
NM_001284509.1:c.398C>T	NP_001271438.1:p.Pro133Leu
NM_001284510.1:c.320C>T	NP_001271439.1:p.Pro107Leu
NM_177550.4:c.449C>T , LRG_1020t1:c.449C>T	NP_808218.1:p.Pro150Leu
XM_006721504.2:c.338C>T	XP_006721567.1:p.Pro113Leu
XM_011523795.1:c.449C>T	XP_011522097.1:p.Pro150Leu
XM_011523795.3:c.449C>T	XP_011522097.1:p.Pro150Leu
NM_001143838.3:c.449C>T	NP_001137310.1:p.Pro150Leu
NM_001284509.2:c.398C>T	NP_001271438.1:p.Pro133Leu
NM_001284510.2:c.320C>T	NP_001271439.1:p.Pro107Leu
NM_177550.5:c.449C>T MANE Select	NP_808218.1:p.Pro150Leu