Canonical Allele Identifier: CA397750214
Gene: SLC13A5 HGNC NCBI

Linked Data

dbSNP Id: rs1206640081
gnomAD v2: 17-6607344-G-A
gnomAD v3: 17-6704025-G-A
gnomAD v4: 17-6704025-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6704025G>A , CM000679.2:g.6704025G>A GRCh38
NC_000017.10:g.6607344G>A , CM000679.1:g.6607344G>A GRCh37
NC_000017.9:g.6548068G>A NCBI36
NG_034220.1:g.14397C>T , LRG_1020:g.14397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433363.7:c.400C>T MANE Select ENSP00000406220.2:p.Leu134Phe
ENST00000293800.10:c.369-20C>T ENSP00000293800.6:n.369-20C>T
ENST00000381074.8:c.271C>T ENSP00000370464.4:p.Leu91Phe
ENST00000433363.6:c.400C>T ENSP00000406220.2:p.Leu134Phe
ENST00000572094.1:c.*150C>T ENSP00000461495.1:n.*150C>T
ENST00000572352.5:c.289C>T ENSP00000461622.1:p.Leu97Phe
ENST00000573648.5:c.400C>T ENSP00000459372.1:p.Leu134Phe
ENST00000574824.5:n.1533C>T
ENST00000576323.1:n.430C>T
NM_001143838.2:c.400C>T NP_001137310.1:p.Leu134Phe
NM_001284509.1:c.369-20C>T NP_001271438.1:n.369-20C>T
NM_001284510.1:c.271C>T NP_001271439.1:p.Leu91Phe
NM_177550.4:c.400C>T , LRG_1020t1:c.400C>T NP_808218.1:p.Leu134Phe
XM_006721504.2:c.289C>T XP_006721567.1:p.Leu97Phe
XM_011523795.1:c.400C>T XP_011522097.1:p.Leu134Phe
XM_011523795.3:c.400C>T XP_011522097.1:p.Leu134Phe
NM_001143838.3:c.400C>T NP_001137310.1:p.Leu134Phe
NM_001284509.2:c.369-20C>T NP_001271438.1:n.369-20C>T
NM_001284510.2:c.271C>T NP_001271439.1:p.Leu91Phe
NM_177550.5:c.400C>T MANE Select NP_808218.1:p.Leu134Phe