Canonical Allele Identifier: CA10198319
Gene: SLC5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2199605
ClinVar RCV Id: RCV002625027
dbSNP Id: rs200505551
ExAC: 22:32500881 G / A
gnomAD v2: 22-32500881-G-A
gnomAD v3: 22-32104894-G-A
gnomAD v4: 22-32104894-G-A
MyVariant Identifiers: chr22:g.32500881G>A (hg19) chr22:g.32104894G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104894G>A , CM000684.2:g.32104894G>A GRCh38
NC_000022.10:g.32500881G>A , CM000684.1:g.32500881G>A GRCh37
NC_000022.9:g.30830881G>A NCBI36
NG_017045.1:g.66863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1771+3G>A MANE Select ENSP00000266088.4:n.1771+3G>A
ENST00000266088.8:c.1771+3G>A ENSP00000266088.4:n.1771+3G>A
ENST00000543737.2:c.1390+3G>A ENSP00000444898.1:n.1390+3G>A
NM_000343.3:c.1771+3G>A NP_000334.1:n.1771+3G>A
NM_001256314.1:c.1390+3G>A NP_001243243.1:n.1390+3G>A
XR_938173.1:n.591+1944C>T
XR_938174.1:n.486+14961C>T
NM_000343.4:c.1771+3G>A MANE Select NP_000334.1:n.1771+3G>A
NM_001256314.2:c.1390+3G>A NP_001243243.1:n.1390+3G>A
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