Canonical Allele Identifier: CA411314863
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32104882-A-C
MyVariant Identifiers: chr22:g.32500869A>C (hg19) chr22:g.32104882A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104882A>C , CM000684.2:g.32104882A>C GRCh38
NC_000022.10:g.32500869A>C , CM000684.1:g.32500869A>C GRCh37
NC_000022.9:g.30830869A>C NCBI36
NG_017045.1:g.66851A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1762A>C MANE Select ENSP00000266088.4:p.Ile588Leu
ENST00000266088.8:c.1762A>C ENSP00000266088.4:p.Ile588Leu
ENST00000543737.2:c.1381A>C ENSP00000444898.1:p.Ile461Leu
NM_000343.3:c.1762A>C NP_000334.1:p.Ile588Leu
NM_001256314.1:c.1381A>C NP_001243243.1:p.Ile461Leu
XR_938173.1:n.591+1956T>G
XR_938174.1:n.486+14973T>G
NM_000343.4:c.1762A>C MANE Select NP_000334.1:p.Ile588Leu
NM_001256314.2:c.1381A>C NP_001243243.1:p.Ile461Leu
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