Canonical Allele Identifier: CA323385319
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1558383
ClinVar RCV Id: RCV002190654
dbSNP Id: rs995612487
gnomAD v2: 22-32500887-T-C
gnomAD v4: 22-32104900-T-C
MyVariant Identifiers: chr22:g.32500887T>C (hg19) chr22:g.32104900T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104900T>C , CM000684.2:g.32104900T>C GRCh38
NC_000022.10:g.32500887T>C , CM000684.1:g.32500887T>C GRCh37
NC_000022.9:g.30830887T>C NCBI36
NG_017045.1:g.66869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1771+9T>C MANE Select ENSP00000266088.4:n.1771+9T>C
ENST00000266088.8:c.1771+9T>C ENSP00000266088.4:n.1771+9T>C
ENST00000543737.2:c.1390+9T>C ENSP00000444898.1:n.1390+9T>C
NM_000343.3:c.1771+9T>C NP_000334.1:n.1771+9T>C
NM_001256314.1:c.1390+9T>C NP_001243243.1:n.1390+9T>C
XR_938173.1:n.591+1938A>G
XR_938174.1:n.486+14955A>G
NM_000343.4:c.1771+9T>C MANE Select NP_000334.1:n.1771+9T>C
NM_001256314.2:c.1390+9T>C NP_001243243.1:n.1390+9T>C
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