Canonical Allele Identifier: CA411314651

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2094042420
• gnomAD v4: 22-32104825-G-A
• MyVariant Identifiers: chr22:g.32500812G>A (hg19) ; chr22:g.32104825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104825G>A , CM000684.2:g.32104825G>A	GRCh38
NC_000022.10:g.32500812G>A , CM000684.1:g.32500812G>A	GRCh37
NC_000022.9:g.30830812G>A	NCBI36
NG_017045.1:g.66794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1705G>A MANE Select	ENSP00000266088.4:p.Glu569Lys
ENST00000266088.8:c.1705G>A	ENSP00000266088.4:p.Glu569Lys
ENST00000543737.2:c.1324G>A	ENSP00000444898.1:p.Glu442Lys
NM_000343.3:c.1705G>A	NP_000334.1:p.Glu569Lys
NM_001256314.1:c.1324G>A	NP_001243243.1:p.Glu442Lys
XR_938173.1:n.591+2013C>T
XR_938174.1:n.486+15030C>T
NM_000343.4:c.1705G>A MANE Select	NP_000334.1:p.Glu569Lys
NM_001256314.2:c.1324G>A	NP_001243243.1:p.Glu442Lys