Canonical Allele Identifier: CA2583492590
Gene: SLC5A5 HGNC NCBI

Linked Data

gnomAD v4: 19-17894024-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17894024G>A , CM000681.2:g.17894024G>A GRCh38
NC_000019.9:g.18004833G>A , CM000681.1:g.18004833G>A GRCh37
NC_000019.8:g.17865833G>A NCBI36
NG_012930.1:g.27052G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.*147G>A MANE Select ENSP00000222248.2:n.*147G>A
ENST00000222248.3:c.*147G>A ENSP00000222248.2:n.*147G>A
NM_000453.2:c.*147G>A NP_000444.1:n.*147G>A
XM_011528192.1:c.*147G>A XP_011526494.1:n.*147G>A
XM_011528193.1:c.*147G>A XP_011526495.1:n.*147G>A
XM_011528194.1:c.*147G>A XP_011526496.1:n.*147G>A
XM_011528192.2:c.*147G>A XP_011526494.1:n.*147G>A
XM_011528193.3:c.*147G>A XP_011526495.1:n.*147G>A
XM_011528194.3:c.*147G>A XP_011526496.1:n.*147G>A
XM_017027158.1:c.*147G>A XP_016882647.1:n.*147G>A
NM_000453.3:c.*147G>A MANE Select NP_000444.1:n.*147G>A
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