Canonical Allele Identifier: CA2632882800

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31486120-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31486120G>A , CM000678.2:g.31486120G>A	GRCh38
NC_000016.9:g.31497441G>A , CM000678.1:g.31497441G>A	GRCh37
NC_000016.8:g.31404942G>A	NCBI36
NG_012892.1:g.8003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.469-50G>A MANE Select	ENSP00000327943.3:n.469-50G>A
ENST00000330498.3:c.469-50G>A	ENSP00000327943.3:n.469-50G>A
ENST00000419665.6:c.469-50G>A	ENSP00000410601.2:n.469-50G>A
ENST00000565446.1:n.343-50G>A
ENST00000569576.5:c.340-50G>A	ENSP00000455143.1:n.340-50G>A
NM_003041.3:c.469-50G>A	NP_003032.1:n.469-50G>A
NR_130783.1:n.488-50G>A
XM_006721072.2:c.490-50G>A	XP_006721135.2:n.490-50G>A
XM_006721073.2:c.490-50G>A	XP_006721136.2:n.490-50G>A
XM_006721072.4:c.490-50G>A	XP_006721135.2:n.490-50G>A
XM_024450402.1:c.490-50G>A	XP_024306170.1:n.490-50G>A
NM_003041.4:c.469-50G>A MANE Select	NP_003032.1:n.469-50G>A
NR_130783.2:n.483-50G>A