Canonical Allele Identifier: CA411314685
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32104832-T-C
MyVariant Identifiers: chr22:g.32500819T>C (hg19) chr22:g.32104832T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104832T>C , CM000684.2:g.32104832T>C GRCh38
NC_000022.10:g.32500819T>C , CM000684.1:g.32500819T>C GRCh37
NC_000022.9:g.30830819T>C NCBI36
NG_017045.1:g.66801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1712T>C MANE Select ENSP00000266088.4:p.Ile571Thr
ENST00000266088.8:c.1712T>C ENSP00000266088.4:p.Ile571Thr
ENST00000543737.2:c.1331T>C ENSP00000444898.1:p.Ile444Thr
NM_000343.3:c.1712T>C NP_000334.1:p.Ile571Thr
NM_001256314.1:c.1331T>C NP_001243243.1:p.Ile444Thr
XR_938173.1:n.591+2006A>G
XR_938174.1:n.486+15023A>G
NM_000343.4:c.1712T>C MANE Select NP_000334.1:p.Ile571Thr
NM_001256314.2:c.1331T>C NP_001243243.1:p.Ile444Thr
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