Canonical Allele Identifier: CA2401804251
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104860C= , CM000684.2:g.32104860C= GRCh38
NC_000022.10:g.32500847C= , CM000684.1:g.32500847C= GRCh37
NC_000022.9:g.30830847C= NCBI36
NG_017045.1:g.66829C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1740C= MANE Select ENSP00000266088.4:p.Ile580=
ENST00000266088.8:c.1740C= ENSP00000266088.4:p.Ile580=
ENST00000543737.2:c.1359C= ENSP00000444898.1:p.Ile453=
NM_000343.3:c.1740C= NP_000334.1:p.Ile580=
NM_001256314.1:c.1359C= NP_001243243.1:p.Ile453=
XR_938173.1:n.591+1978G=
XR_938174.1:n.486+14995G=
NM_000343.4:c.1740C= MANE Select NP_000334.1:p.Ile580=
NM_001256314.2:c.1359C= NP_001243243.1:p.Ile453=