Canonical Allele Identifier: CA411314797
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32104858-A-C
MyVariant Identifiers: chr22:g.32500845A>C (hg19) chr22:g.32104858A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1738A>C MANE Select ENSP00000266088.4:p.Ile580Leu
ENST00000266088.8:c.1738A>C ENSP00000266088.4:p.Ile580Leu
ENST00000543737.2:c.1357A>C ENSP00000444898.1:p.Ile453Leu
NM_000343.3:c.1738A>C NP_000334.1:p.Ile580Leu
NM_001256314.1:c.1357A>C NP_001243243.1:p.Ile453Leu
XR_938173.1:n.591+1980T>G
XR_938174.1:n.486+14997T>G
NM_000343.4:c.1738A>C MANE Select NP_000334.1:p.Ile580Leu
NM_001256314.2:c.1357A>C NP_001243243.1:p.Ile453Leu
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