Canonical Allele Identifier: CA411307323
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32043287-C-G
MyVariant Identifiers: chr22:g.32439274C>G (hg19) chr22:g.32043287C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043287C>G , CM000684.2:g.32043287C>G GRCh38
NC_000022.10:g.32439274C>G , CM000684.1:g.32439274C>G GRCh37
NC_000022.9:g.30769274C>G NCBI36
NG_017045.1:g.5256C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.6C>G MANE Select ENSP00000266088.4:p.Asp2Glu
ENST00000266088.8:c.6C>G ENSP00000266088.4:p.Asp2Glu
NM_000343.3:c.6C>G NP_000334.1:p.Asp2Glu
XM_011530331.1:c.6C>G XP_011528633.1:p.Asp2Glu
NM_000343.4:c.6C>G MANE Select NP_000334.1:p.Asp2Glu
Search 100 bp 5'
Search 100 bp 3'