Canonical Allele Identifier: CA411314747

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32104847-A-G
• MyVariant Identifiers: chr22:g.32500834A>G (hg19) ; chr22:g.32104847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104847A>G , CM000684.2:g.32104847A>G	GRCh38
NC_000022.10:g.32500834A>G , CM000684.1:g.32500834A>G	GRCh37
NC_000022.9:g.30830834A>G	NCBI36
NG_017045.1:g.66816A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1727A>G MANE Select	ENSP00000266088.4:p.Glu576Gly
ENST00000266088.8:c.1727A>G	ENSP00000266088.4:p.Glu576Gly
ENST00000543737.2:c.1346A>G	ENSP00000444898.1:p.Glu449Gly
NM_000343.3:c.1727A>G	NP_000334.1:p.Glu576Gly
NM_001256314.1:c.1346A>G	NP_001243243.1:p.Glu449Gly
XR_938173.1:n.591+1991T>C
XR_938174.1:n.486+15008T>C
NM_000343.4:c.1727A>G MANE Select	NP_000334.1:p.Glu576Gly
NM_001256314.2:c.1346A>G	NP_001243243.1:p.Glu449Gly