Canonical Allele Identifier: CA514277443
Gene: SLC5A1 HGNC NCBI

Linked Data

gnomAD v4: 22-32104839-G-A
MyVariant Identifiers: chr22:g.32500826G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104839G>A , CM000684.2:g.32104839G>A GRCh38
NC_000022.10:g.32500826G>A , CM000684.1:g.32500826G>A GRCh37
NC_000022.9:g.30830826G>A NCBI36
NG_017045.1:g.66808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1719G>A MANE Select ENSP00000266088.4:p.Leu573=
ENST00000266088.8:c.1719G>A ENSP00000266088.4:p.Leu573=
ENST00000543737.2:c.1338G>A ENSP00000444898.1:p.Leu446=
NM_000343.3:c.1719G>A NP_000334.1:p.Leu573=
NM_001256314.1:c.1338G>A NP_001243243.1:p.Leu446=
XR_938173.1:n.591+1999C>T
XR_938174.1:n.486+15016C>T
NM_000343.4:c.1719G>A MANE Select NP_000334.1:p.Leu573=
NM_001256314.2:c.1338G>A NP_001243243.1:p.Leu446=
Search 100 bp 5'
Search 100 bp 3'