Canonical Allele Identifier: CA411314629
Gene: SLC5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104821A>C , CM000684.2:g.32104821A>C GRCh38
NC_000022.10:g.32500808A>C , CM000684.1:g.32500808A>C GRCh37
NC_000022.9:g.30830808A>C NCBI36
NG_017045.1:g.66790A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1701A>C MANE Select ENSP00000266088.4:p.Lys567Asn
ENST00000266088.8:c.1701A>C ENSP00000266088.4:p.Lys567Asn
ENST00000543737.2:c.1320A>C ENSP00000444898.1:p.Lys440Asn
NM_000343.3:c.1701A>C NP_000334.1:p.Lys567Asn
NM_001256314.1:c.1320A>C NP_001243243.1:p.Lys440Asn
XR_938173.1:n.591+2017T>G
XR_938174.1:n.486+15034T>G
NM_000343.4:c.1701A>C MANE Select NP_000334.1:p.Lys567Asn
NM_001256314.2:c.1320A>C NP_001243243.1:p.Lys440Asn