Canonical Allele Identifier: CA128704

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31484914C>A , CM000678.2:g.31484914C>A	GRCh38
NC_000016.9:g.31496235C>A , CM000678.1:g.31496235C>A	GRCh37
NC_000016.8:g.31403736C>A	NCBI36
NG_012892.1:g.6797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.294C>A MANE Select	ENSP00000327943.3:p.Phe98Leu
ENST00000330498.3:c.294C>A	ENSP00000327943.3:p.Phe98Leu
ENST00000419665.6:c.294C>A	ENSP00000410601.2:p.Phe98Leu
ENST00000562006.1:n.293C>A
ENST00000565446.1:n.168C>A
ENST00000569576.5:c.165C>A	ENSP00000455143.1:p.Phe55Leu
NM_003041.3:c.294C>A	NP_003032.1:p.Phe98Leu
NR_130783.1:n.313C>A
XM_006721072.2:c.315C>A	XP_006721135.2:p.Phe105Leu
XM_006721073.2:c.315C>A	XP_006721136.2:p.Phe105Leu
XM_006721072.4:c.315C>A	XP_006721135.2:p.Phe105Leu
XM_024450402.1:c.315C>A	XP_024306170.1:p.Phe105Leu
NM_003041.4:c.294C>A MANE Select	NP_003032.1:p.Phe98Leu
NR_130783.2:n.308C>A