Canonical Allele Identifier: CA10652326
Gene: SLC5A5 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.17894103T>C
GRCh37 chr19:g.18004912T>C
gnomAD v2:
19:18004912 T / C
gnomAD v3:
19:17894103 T / C
gnomAD v4:
chr19-17894103-T-C
Joint Max Group AF 0.24275778 (NFE)
Genomes Max Group AF 0.23950748 (NFE)
Exomes Max Group AF 0.24304562 (NFE)
ClinVar RCV:
RCV000323427
RCV001712050
ClinVar Variation:
328548
dbSNP:
12327843
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17894103T>C , CM000681.2:g.17894103T>C GRCh38
NC_000019.9:g.18004912T>C , CM000681.1:g.18004912T>C GRCh37
NC_000019.8:g.17865912T>C NCBI36
NG_012930.1:g.27131T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.*226T>C MANE Select ENSP00000222248.2:n.*226T>C
ENST00000222248.3:c.*226T>C ENSP00000222248.2:n.*226T>C
NM_000453.2:c.*226T>C NP_000444.1:n.*226T>C
XM_011528192.1:c.*226T>C XP_011526494.1:n.*226T>C
XM_011528193.1:c.*226T>C XP_011526495.1:n.*226T>C
XM_011528194.1:c.*226T>C XP_011526496.1:n.*226T>C
XM_011528192.2:c.*226T>C XP_011526494.1:n.*226T>C
XM_011528193.3:c.*226T>C XP_011526495.1:n.*226T>C
XM_011528194.3:c.*226T>C XP_011526496.1:n.*226T>C
XM_017027158.1:c.*226T>C XP_016882647.1:n.*226T>C
NM_000453.3:c.*226T>C MANE Select NP_000444.1:n.*226T>C
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