Canonical Allele Identifier: CA10586213

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31484885G>A , CM000678.2:g.31484885G>A	GRCh38
NC_000016.9:g.31496206G>A , CM000678.1:g.31496206G>A	GRCh37
NC_000016.8:g.31403707G>A	NCBI36
NG_012892.1:g.6768G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.265G>A MANE Select	NP_003032.1:p.Ala89Thr
ENST00000330498.4:c.265G>A MANE Select	ENSP00000327943.3:p.Ala89Thr
NM_003041.3:c.265G>A	NP_003032.1:p.Ala89Thr
NR_130783.1:n.284G>A
NR_130783.2:n.279G>A
ENST00000330498.3:c.265G>A	ENSP00000327943.3:p.Ala89Thr
ENST00000419665.6:c.265G>A	ENSP00000410601.2:p.Ala89Thr
ENST00000562006.1:n.264G>A
ENST00000565446.1:n.139G>A
ENST00000569576.5:c.136G>A	ENSP00000455143.1:p.Ala46Thr
XM_006721072.2:c.286G>A	XP_006721135.2:p.Ala96Thr
XM_006721072.4:c.286G>A	XP_006721135.2:p.Ala96Thr
XM_006721073.2:c.286G>A	XP_006721136.2:p.Ala96Thr
XM_024450402.1:c.286G>A	XP_024306170.1:p.Ala96Thr