Canonical Allele Identifier: CA395755363

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489034C>T , CM000678.2:g.31489034C>T	GRCh38
NC_000016.9:g.31500355C>T , CM000678.1:g.31500355C>T	GRCh37
NC_000016.8:g.31407856C>T	NCBI36
NG_012892.1:g.10917C>T
NG_033149.1:g.24386G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1435C>T MANE Select	NP_003032.1:p.Arg479Cys
ENST00000330498.4:c.1435C>T MANE Select	ENSP00000327943.3:p.Arg479Cys
NM_003041.3:c.1435C>T	NP_003032.1:p.Arg479Cys
NR_130783.1:n.1149-89C>T
NR_130783.2:n.1144-89C>T
ENST00000330498.3:c.1435C>T	ENSP00000327943.3:p.Arg479Cys
ENST00000419665.6:c.1130-89C>T	ENSP00000410601.2:n.1130-89C>T
ENST00000568188.1:n.806C>T
ENST00000568891.1:n.282-89C>T
XM_006721072.2:c.1456C>T	XP_006721135.2:p.Arg486Cys
XM_006721072.4:c.1456C>T	XP_006721135.2:p.Arg486Cys
XM_006721073.2:c.1302-89C>T	XP_006721136.2:n.1302-89C>T
XM_024450402.1:c.1151-89C>T	XP_024306170.1:n.1151-89C>T