Canonical Allele Identifier: CA10198312
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 731145
ClinVar RCV Id: RCV002068653
dbSNP Id: rs149362007
ExAC: 22:32500859 T / G
gnomAD v2: 22-32500859-T-G
gnomAD v3: 22-32104872-T-G
gnomAD v4: 22-32104872-T-G
MyVariant Identifiers: chr22:g.32500859T>G (hg19) chr22:g.32104872T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104872T>G , CM000684.2:g.32104872T>G GRCh38
NC_000022.10:g.32500859T>G , CM000684.1:g.32500859T>G GRCh37
NC_000022.9:g.30830859T>G NCBI36
NG_017045.1:g.66841T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1752T>G MANE Select ENSP00000266088.4:p.Pro584=
ENST00000266088.8:c.1752T>G ENSP00000266088.4:p.Pro584=
ENST00000543737.2:c.1371T>G ENSP00000444898.1:p.Pro457=
NM_000343.3:c.1752T>G NP_000334.1:p.Pro584=
NM_001256314.1:c.1371T>G NP_001243243.1:p.Pro457=
XR_938173.1:n.591+1966A>C
XR_938174.1:n.486+14983A>C
NM_000343.4:c.1752T>G MANE Select NP_000334.1:p.Pro584=
NM_001256314.2:c.1371T>G NP_001243243.1:p.Pro457=
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