Canonical Allele Identifier: CA10198315
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs751987106
ExAC: 22:32500865 G / C
gnomAD v2: 22-32500865-G-C
gnomAD v4: 22-32104878-G-C
MyVariant Identifiers: chr22:g.32500865G>C (hg19) chr22:g.32104878G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104878G>C , CM000684.2:g.32104878G>C GRCh38
NC_000022.10:g.32500865G>C , CM000684.1:g.32500865G>C GRCh37
NC_000022.9:g.30830865G>C NCBI36
NG_017045.1:g.66847G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1758G>C MANE Select ENSP00000266088.4:p.Glu586Asp
ENST00000266088.8:c.1758G>C ENSP00000266088.4:p.Glu586Asp
ENST00000543737.2:c.1377G>C ENSP00000444898.1:p.Glu459Asp
NM_000343.3:c.1758G>C NP_000334.1:p.Glu586Asp
NM_001256314.1:c.1377G>C NP_001243243.1:p.Glu459Asp
XR_938173.1:n.591+1960C>G
XR_938174.1:n.486+14977C>G
NM_000343.4:c.1758G>C MANE Select NP_000334.1:p.Glu586Asp
NM_001256314.2:c.1377G>C NP_001243243.1:p.Glu459Asp
Search 100 bp 5'
Search 100 bp 3'