Canonical Allele Identifier: CA9303265
Gene: SLC5A5 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.17890877G>A
GRCh37 chr19:g.18001686G>A
gnomAD v2:
19:18001686 G / A
gnomAD v3:
19:17890877 G / A
gnomAD v4:
chr19-17890877-G-A
Joint Max Group AF 0.24452672 (MID)
Genomes Max Group AF 0.23170474 (NFE)
Exomes Max Group AF 0.2451718 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17890877G>A , CM000681.2:g.17890877G>A GRCh38
NC_000019.9:g.18001686G>A , CM000681.1:g.18001686G>A GRCh37
NC_000019.8:g.17862686G>A NCBI36
NG_012930.1:g.23905G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.1652-9G>A MANE Select ENSP00000222248.2:n.1652-9G>A
ENST00000222248.3:c.1652-9G>A ENSP00000222248.2:n.1652-9G>A
NM_000453.2:c.1652-9G>A NP_000444.1:n.1652-9G>A
XM_011528192.1:c.1685-9G>A XP_011526494.1:n.1685-9G>A
XM_011528193.1:c.1418-9G>A XP_011526495.1:n.1418-9G>A
XM_011528194.1:c.1319-9G>A XP_011526496.1:n.1319-9G>A
XM_011528192.2:c.1685-9G>A XP_011526494.1:n.1685-9G>A
XM_011528193.3:c.1418-9G>A XP_011526495.1:n.1418-9G>A
XM_011528194.3:c.1319-9G>A XP_011526496.1:n.1319-9G>A
XM_017027158.1:c.1385-9G>A XP_016882647.1:n.1385-9G>A
NM_000453.3:c.1652-9G>A MANE Select NP_000444.1:n.1652-9G>A
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