Canonical Allele Identifier: CA10198072

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32084636T>G , CM000684.2:g.32084636T>G	GRCh38
NC_000022.10:g.32480623T>G , CM000684.1:g.32480623T>G	GRCh37
NC_000022.9:g.30810623T>G	NCBI36
NG_017045.1:g.46605T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.862T>G MANE Select	NP_000334.1:p.Leu288Val
ENST00000266088.9:c.862T>G MANE Select	ENSP00000266088.4:p.Leu288Val
NM_000343.3:c.862T>G	NP_000334.1:p.Leu288Val
NM_001256314.1:c.481T>G	NP_001243243.1:p.Leu161Val
NM_001256314.2:c.481T>G	NP_001243243.1:p.Leu161Val
ENST00000266088.8:c.862T>G	ENSP00000266088.4:p.Leu288Val
ENST00000486394.1:n.302T>G
ENST00000543737.2:c.481T>G	ENSP00000444898.1:p.Leu161Val
XM_011530331.1:c.862T>G	XP_011528633.1:p.Leu288Val
XR_938173.1:n.592-15833A>C
XR_938174.1:n.487-15833A>C