Canonical Allele Identifier: CA514277429
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32104812-C-A
MyVariant Identifiers: chr22:g.32500799C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104812C>A , CM000684.2:g.32104812C>A GRCh38
NC_000022.10:g.32500799C>A , CM000684.1:g.32500799C>A GRCh37
NC_000022.9:g.30830799C>A NCBI36
NG_017045.1:g.66781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1692C>A MANE Select ENSP00000266088.4:p.Arg564=
ENST00000266088.8:c.1692C>A ENSP00000266088.4:p.Arg564=
ENST00000543737.2:c.1311C>A ENSP00000444898.1:p.Arg437=
NM_000343.3:c.1692C>A NP_000334.1:p.Arg564=
NM_001256314.1:c.1311C>A NP_001243243.1:p.Arg437=
XR_938173.1:n.591+2026G>T
XR_938174.1:n.486+15043G>T
NM_000343.4:c.1692C>A MANE Select NP_000334.1:p.Arg564=
NM_001256314.2:c.1311C>A NP_001243243.1:p.Arg437=
Search 100 bp 5'
Search 100 bp 3'