Canonical Allele Identifier: CA8031059

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488773G>A , CM000678.2:g.31488773G>A	GRCh38
NC_000016.9:g.31500094G>A , CM000678.1:g.31500094G>A	GRCh37
NC_000016.8:g.31407595G>A	NCBI36
NG_012892.1:g.10656G>A
NG_033149.1:g.24647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1280+1G>A MANE Select	NP_003032.1:n.1280+1G>A
ENST00000330498.4:c.1280+1G>A MANE Select	ENSP00000327943.3:n.1280+1G>A
NM_003041.3:c.1280+1G>A	NP_003032.1:n.1280+1G>A
NR_130783.1:n.1148+283G>A
NR_130783.2:n.1143+283G>A
ENST00000330498.3:c.1280+1G>A	ENSP00000327943.3:n.1280+1G>A
ENST00000419665.6:c.1129+283G>A	ENSP00000410601.2:n.1129+283G>A
ENST00000568188.1:n.545G>A
ENST00000568891.1:n.281+283G>A
XM_006721072.2:c.1301+1G>A	XP_006721135.2:n.1301+1G>A
XM_006721072.4:c.1301+1G>A	XP_006721135.2:n.1301+1G>A
XM_006721073.2:c.1301+1G>A	XP_006721136.2:n.1301+1G>A
XM_024450402.1:c.1150+283G>A	XP_024306170.1:n.1150+283G>A