Canonical Allele Identifier: CA395751840

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31484912T>C , CM000678.2:g.31484912T>C	GRCh38
NC_000016.9:g.31496233T>C , CM000678.1:g.31496233T>C	GRCh37
NC_000016.8:g.31403734T>C	NCBI36
NG_012892.1:g.6795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.292T>C MANE Select	ENSP00000327943.3:p.Phe98Leu
ENST00000330498.3:c.292T>C	ENSP00000327943.3:p.Phe98Leu
ENST00000419665.6:c.292T>C	ENSP00000410601.2:p.Phe98Leu
ENST00000562006.1:n.291T>C
ENST00000565446.1:n.166T>C
ENST00000569576.5:c.163T>C	ENSP00000455143.1:p.Phe55Leu
NM_003041.3:c.292T>C	NP_003032.1:p.Phe98Leu
NR_130783.1:n.311T>C
XM_006721072.2:c.313T>C	XP_006721135.2:p.Phe105Leu
XM_006721073.2:c.313T>C	XP_006721136.2:p.Phe105Leu
XM_006721072.4:c.313T>C	XP_006721135.2:p.Phe105Leu
XM_024450402.1:c.313T>C	XP_024306170.1:p.Phe105Leu
NM_003041.4:c.292T>C MANE Select	NP_003032.1:p.Phe98Leu
NR_130783.2:n.306T>C