Canonical Allele Identifier: CA497595681

Gene: SLC13A5 C17orf100 ALOX15P1

Linked Data

• MyVariant Identifiers: chr17:g.6590857A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6687538A>C , CM000679.2:g.6687538A>C	GRCh38
NC_000017.10:g.6590857A>C , CM000679.1:g.6590857A>C	GRCh37
NC_000017.9:g.6531581A>C	NCBI36
NG_034220.1:g.30884T>G , LRG_1020:g.30884T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1566T>G (SLC13A5) MANE Select	ENSP00000406220.2:p.Val522=
ENST00000635042.1:n.725-5327A>C (C17orf100)
ENST00000293800.10:c.1515T>G (SLC13A5)	ENSP00000293800.6:p.Val505=
ENST00000381074.8:c.1437T>G (SLC13A5)	ENSP00000370464.4:p.Val479=
ENST00000433363.6:c.1566T>G (SLC13A5)	ENSP00000406220.2:p.Val522=
ENST00000570687.1:c.235T>G (SLC13A5)
ENST00000573648.5:c.1438-1200T>G (SLC13A5)	ENSP00000459372.1:n.1438-1200T>G
ENST00000574580.2:n.2583T>G (SLC13A5)
ENST00000634558.1:n.511-2338A>C (ALOX15P1)
ENST00000634823.1:n.265-5327A>C (ALOX15P1)
NM_001143838.2:c.1438-1200T>G (SLC13A5)	NP_001137310.1:n.1438-1200T>G
NM_001284509.1:c.1515T>G (SLC13A5)	NP_001271438.1:p.Val505=
NM_001284510.1:c.1437T>G (SLC13A5)	NP_001271439.1:p.Val479=
NM_177550.4:c.1566T>G , LRG_1020t1:c.1566T>G (SLC13A5)	NP_808218.1:p.Val522=
XM_006721504.2:c.1455T>G (SLC13A5)	XP_006721567.1:p.Val485=
XM_011523795.3:c.*239T>G (SLC13A5)	XP_011522097.1:n.*239T>G
NM_001143838.3:c.1438-1200T>G (SLC13A5)	NP_001137310.1:n.1438-1200T>G
NM_001284509.2:c.1515T>G (SLC13A5)	NP_001271438.1:p.Val505=
NM_001284510.2:c.1437T>G (SLC13A5)	NP_001271439.1:p.Val479=
NM_177550.5:c.1566T>G (SLC13A5) MANE Select	NP_808218.1:p.Val522=