Canonical Allele Identifier: CA639080510
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1234556079
gnomAD v2: 22-32500580-T-C
gnomAD v3: 22-32104593-T-C
gnomAD v4: 22-32104593-T-C
MyVariant Identifiers: chr22:g.32500580T>C (hg19) chr22:g.32104593T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104593T>C , CM000684.2:g.32104593T>C GRCh38
NC_000022.10:g.32500580T>C , CM000684.1:g.32500580T>C GRCh37
NC_000022.9:g.30830580T>C NCBI36
NG_017045.1:g.66562T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1666-193T>C MANE Select ENSP00000266088.4:n.1666-193T>C
ENST00000266088.8:c.1666-193T>C ENSP00000266088.4:n.1666-193T>C
ENST00000543737.2:c.1285-193T>C ENSP00000444898.1:n.1285-193T>C
NM_000343.3:c.1666-193T>C NP_000334.1:n.1666-193T>C
NM_001256314.1:c.1285-193T>C NP_001243243.1:n.1285-193T>C
XR_938173.1:n.591+2245A>G
XR_938174.1:n.486+15262A>G
NM_000343.4:c.1666-193T>C MANE Select NP_000334.1:n.1666-193T>C
NM_001256314.2:c.1285-193T>C NP_001243243.1:n.1285-193T>C
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