Canonical Allele Identifier: CA411307309
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32043285-G-T
MyVariant Identifiers: chr22:g.32439272G>T (hg19) chr22:g.32043285G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32043285G>T , CM000684.2:g.32043285G>T GRCh38
NC_000022.10:g.32439272G>T , CM000684.1:g.32439272G>T GRCh37
NC_000022.9:g.30769272G>T NCBI36
NG_017045.1:g.5254G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266088.9:c.4G>T MANE Select ENSP00000266088.4:p.Asp2Tyr
ENST00000266088.8:c.4G>T ENSP00000266088.4:p.Asp2Tyr
NM_000343.3:c.4G>T NP_000334.1:p.Asp2Tyr
XM_011530331.1:c.4G>T XP_011528633.1:p.Asp2Tyr
NM_000343.4:c.4G>T MANE Select NP_000334.1:p.Asp2Tyr
Search 100 bp 5'
Search 100 bp 3'