Canonical Allele Identifier: CA323385155
Gene: SLC5A1 HGNC NCBI

Linked Data

dbSNP Id: rs923881932
gnomAD v2: 22-32500807-A-T
gnomAD v3: 22-32104820-A-T
gnomAD v4: 22-32104820-A-T
MyVariant Identifiers: chr22:g.32500807A>T (hg19) chr22:g.32104820A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104820A>T , CM000684.2:g.32104820A>T GRCh38
NC_000022.10:g.32500807A>T , CM000684.1:g.32500807A>T GRCh37
NC_000022.9:g.30830807A>T NCBI36
NG_017045.1:g.66789A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1700A>T MANE Select ENSP00000266088.4:p.Lys567Ile
ENST00000266088.8:c.1700A>T ENSP00000266088.4:p.Lys567Ile
ENST00000543737.2:c.1319A>T ENSP00000444898.1:p.Lys440Ile
NM_000343.3:c.1700A>T NP_000334.1:p.Lys567Ile
NM_001256314.1:c.1319A>T NP_001243243.1:p.Lys440Ile
XR_938173.1:n.591+2018T>A
XR_938174.1:n.486+15035T>A
NM_000343.4:c.1700A>T MANE Select NP_000334.1:p.Lys567Ile
NM_001256314.2:c.1319A>T NP_001243243.1:p.Lys440Ile
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