Canonical Allele Identifier: CA497596358

Gene: SLC13A5

Linked Data

• gnomAD v4: 17-6695929-G-A
• MyVariant Identifiers: chr17:g.6599248G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695929G>A , CM000679.2:g.6695929G>A	GRCh38
NC_000017.10:g.6599248G>A , CM000679.1:g.6599248G>A	GRCh37
NC_000017.9:g.6539972G>A	NCBI36
NG_034220.1:g.22493C>T , LRG_1020:g.22493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.852C>T MANE Select	ENSP00000406220.2:p.Ser284=
ENST00000293800.10:c.801C>T	ENSP00000293800.6:p.Ser267=
ENST00000381074.8:c.723C>T	ENSP00000370464.4:p.Ser241=
ENST00000433363.6:c.852C>T	ENSP00000406220.2:p.Ser284=
ENST00000572094.1:c.*602C>T	ENSP00000461495.1:n.*602C>T
ENST00000573648.5:c.852C>T	ENSP00000459372.1:p.Ser284=
ENST00000574824.5:n.1985C>T
NM_001143838.2:c.852C>T	NP_001137310.1:p.Ser284=
NM_001284509.1:c.801C>T	NP_001271438.1:p.Ser267=
NM_001284510.1:c.723C>T	NP_001271439.1:p.Ser241=
NM_177550.4:c.852C>T , LRG_1020t1:c.852C>T	NP_808218.1:p.Ser284=
XM_006721504.2:c.741C>T	XP_006721567.1:p.Ser247=
XM_011523795.1:c.852C>T	XP_011522097.1:p.Ser284=
XM_011523795.3:c.852C>T	XP_011522097.1:p.Ser284=
NM_001143838.3:c.852C>T	NP_001137310.1:p.Ser284=
NM_001284509.2:c.801C>T	NP_001271438.1:p.Ser267=
NM_001284510.2:c.723C>T	NP_001271439.1:p.Ser241=
NM_177550.5:c.852C>T MANE Select	NP_808218.1:p.Ser284=