Canonical Allele Identifier: CA2401804257
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104868G= , CM000684.2:g.32104868G= GRCh38
NC_000022.10:g.32500855G= , CM000684.1:g.32500855G= GRCh37
NC_000022.9:g.30830855G= NCBI36
NG_017045.1:g.66837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1748G= MANE Select ENSP00000266088.4:p.Gly583=
ENST00000266088.8:c.1748G= ENSP00000266088.4:p.Gly583=
ENST00000543737.2:c.1367G= ENSP00000444898.1:p.Gly456=
NM_000343.3:c.1748G= NP_000334.1:p.Gly583=
NM_001256314.1:c.1367G= NP_001243243.1:p.Gly456=
XR_938173.1:n.591+1970C=
XR_938174.1:n.486+14987C=
NM_000343.4:c.1748G= MANE Select NP_000334.1:p.Gly583=
NM_001256314.2:c.1367G= NP_001243243.1:p.Gly456=