Canonical Allele Identifier: CA10198308
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs773181968
ExAC: 22:32500845 A / G
gnomAD v2: 22-32500845-A-G
gnomAD v3: 22-32104858-A-G
gnomAD v4: 22-32104858-A-G
MyVariant Identifiers: chr22:g.32500845A>G (hg19) chr22:g.32104858A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104858A>G , CM000684.2:g.32104858A>G GRCh38
NC_000022.10:g.32500845A>G , CM000684.1:g.32500845A>G GRCh37
NC_000022.9:g.30830845A>G NCBI36
NG_017045.1:g.66827A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1738A>G MANE Select ENSP00000266088.4:p.Ile580Val
ENST00000266088.8:c.1738A>G ENSP00000266088.4:p.Ile580Val
ENST00000543737.2:c.1357A>G ENSP00000444898.1:p.Ile453Val
NM_000343.3:c.1738A>G NP_000334.1:p.Ile580Val
NM_001256314.1:c.1357A>G NP_001243243.1:p.Ile453Val
XR_938173.1:n.591+1980T>C
XR_938174.1:n.486+14997T>C
NM_000343.4:c.1738A>G MANE Select NP_000334.1:p.Ile580Val
NM_001256314.2:c.1357A>G NP_001243243.1:p.Ile453Val
Search 100 bp 5'
Search 100 bp 3'