Canonical Allele Identifier: CA14657057
Gene: SLC5A5 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.17893553C>G
GRCh37 chr19:g.18004362C>G
gnomAD v2:
19:18004362 C / G
gnomAD v3:
19:17893553 C / G
gnomAD v4:
chr19-17893553-C-G
Joint Max Group AF 0.57618598 (AFR)
Genomes Max Group AF 0.57618598 (AFR)
ClinVar RCV:
RCV001609966
ClinVar Variation:
1231310
dbSNP:
7250346
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17893553C>G , CM000681.2:g.17893553C>G GRCh38
NC_000019.9:g.18004362C>G , CM000681.1:g.18004362C>G GRCh37
NC_000019.8:g.17865362C>G NCBI36
NG_012930.1:g.26581C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222248.4:c.1768-160C>G MANE Select ENSP00000222248.2:n.1768-160C>G
ENST00000222248.3:c.1768-160C>G ENSP00000222248.2:n.1768-160C>G
NM_000453.2:c.1768-160C>G NP_000444.1:n.1768-160C>G
XM_011528192.1:c.1801-160C>G XP_011526494.1:n.1801-160C>G
XM_011528193.1:c.1534-160C>G XP_011526495.1:n.1534-160C>G
XM_011528194.1:c.1435-160C>G XP_011526496.1:n.1435-160C>G
XM_011528192.2:c.1801-160C>G XP_011526494.1:n.1801-160C>G
XM_011528193.3:c.1534-160C>G XP_011526495.1:n.1534-160C>G
XM_011528194.3:c.1435-160C>G XP_011526496.1:n.1435-160C>G
XM_017027158.1:c.1501-160C>G XP_016882647.1:n.1501-160C>G
NM_000453.3:c.1768-160C>G MANE Select NP_000444.1:n.1768-160C>G
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