Canonical Allele Identifier: CA8331542

Gene: SLC13A5

Linked Data

• dbSNP Id: rs752125955
• ExAC: 17:6599014 G / A
• gnomAD v2: 17-6599014-G-A
• gnomAD v4: 17-6695695-G-A
• MyVariant Identifiers: chr17:g.6599014G>A (hg19) ; chr17:g.6695695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6695695G>A , CM000679.2:g.6695695G>A	GRCh38
NC_000017.10:g.6599014G>A , CM000679.1:g.6599014G>A	GRCh37
NC_000017.9:g.6539738G>A	NCBI36
NG_034220.1:g.22727C>T , LRG_1020:g.22727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433363.7:c.1055+31C>T MANE Select	ENSP00000406220.2:n.1055+31C>T
ENST00000293800.10:c.1004+31C>T	ENSP00000293800.6:n.1004+31C>T
ENST00000381074.8:c.926+31C>T	ENSP00000370464.4:n.926+31C>T
ENST00000433363.6:c.1055+31C>T	ENSP00000406220.2:n.1055+31C>T
ENST00000572727.1:n.164+31C>T
ENST00000573648.5:c.1055+31C>T	ENSP00000459372.1:n.1055+31C>T
ENST00000574824.5:n.2219C>T
NM_001143838.2:c.1055+31C>T	NP_001137310.1:n.1055+31C>T
NM_001284509.1:c.1004+31C>T	NP_001271438.1:n.1004+31C>T
NM_001284510.1:c.926+31C>T	NP_001271439.1:n.926+31C>T
NM_177550.4:c.1055+31C>T , LRG_1020t1:c.1055+31C>T	NP_808218.1:n.1055+31C>T
XM_006721504.2:c.944+31C>T	XP_006721567.1:n.944+31C>T
XM_011523795.1:c.1055+31C>T	XP_011522097.1:n.1055+31C>T
XM_011523795.3:c.1055+31C>T	XP_011522097.1:n.1055+31C>T
NM_001143838.3:c.1055+31C>T	NP_001137310.1:n.1055+31C>T
NM_001284509.2:c.1004+31C>T	NP_001271438.1:n.1004+31C>T
NM_001284510.2:c.926+31C>T	NP_001271439.1:n.926+31C>T
NM_177550.5:c.1055+31C>T MANE Select	NP_808218.1:n.1055+31C>T