Canonical Allele Identifier: CA411313023

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32102068G>A , CM000684.2:g.32102068G>A	GRCh38
NC_000022.10:g.32498055G>A , CM000684.1:g.32498055G>A	GRCh37
NC_000022.9:g.30828055G>A	NCBI36
NG_017045.1:g.64037G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1496G>A MANE Select	NP_000334.1:p.Arg499His
ENST00000266088.9:c.1496G>A MANE Select	ENSP00000266088.4:p.Arg499His
NM_000343.3:c.1496G>A	NP_000334.1:p.Arg499His
NM_001256314.1:c.1115G>A	NP_001243243.1:p.Arg372His
NM_001256314.2:c.1115G>A	NP_001243243.1:p.Arg372His
ENST00000266088.8:c.1496G>A	ENSP00000266088.4:p.Arg499His
ENST00000477969.1:n.662G>A
ENST00000543737.2:c.1115G>A	ENSP00000444898.1:p.Arg372His
XM_011530331.1:c.*28G>A	XP_011528633.1:n.*28G>A
XR_938173.1:n.591+4770C>T
XR_938174.1:n.486+17787C>T