Canonical Allele Identifier: CA2401804230
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104823A= , CM000684.2:g.32104823A= GRCh38
NC_000022.10:g.32500810A= , CM000684.1:g.32500810A= GRCh37
NC_000022.9:g.30830810A= NCBI36
NG_017045.1:g.66792A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1703A= MANE Select ENSP00000266088.4:p.Glu568=
ENST00000266088.8:c.1703A= ENSP00000266088.4:p.Glu568=
ENST00000543737.2:c.1322A= ENSP00000444898.1:p.Glu441=
NM_000343.3:c.1703A= NP_000334.1:p.Glu568=
NM_001256314.1:c.1322A= NP_001243243.1:p.Glu441=
XR_938173.1:n.591+2015T=
XR_938174.1:n.486+15032T=
NM_000343.4:c.1703A= MANE Select NP_000334.1:p.Glu568=
NM_001256314.2:c.1322A= NP_001243243.1:p.Glu441=