Canonical Allele Identifier: CA2583492507
Gene: SLC5A5 HGNC NCBI

Linked Data

gnomAD v4: 19-17893914-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17893914G>C , CM000681.2:g.17893914G>C GRCh38
NC_000019.9:g.18004723G>C , CM000681.1:g.18004723G>C GRCh37
NC_000019.8:g.17865723G>C NCBI36
NG_012930.1:g.26942G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000222248.4:c.*37G>C MANE Select ENSP00000222248.2:n.*37G>C
ENST00000222248.3:c.*37G>C ENSP00000222248.2:n.*37G>C
NM_000453.2:c.*37G>C NP_000444.1:n.*37G>C
XM_011528192.1:c.*37G>C XP_011526494.1:n.*37G>C
XM_011528193.1:c.*37G>C XP_011526495.1:n.*37G>C
XM_011528194.1:c.*37G>C XP_011526496.1:n.*37G>C
XM_011528192.2:c.*37G>C XP_011526494.1:n.*37G>C
XM_011528193.3:c.*37G>C XP_011526495.1:n.*37G>C
XM_011528194.3:c.*37G>C XP_011526496.1:n.*37G>C
XM_017027158.1:c.*37G>C XP_016882647.1:n.*37G>C
NM_000453.3:c.*37G>C MANE Select NP_000444.1:n.*37G>C
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