Canonical Allele Identifier: CA411314837

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2094042605
• gnomAD v4: 22-32104870-C-T
• MyVariant Identifiers: chr22:g.32500857C>T (hg19) ; chr22:g.32104870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104870C>T , CM000684.2:g.32104870C>T	GRCh38
NC_000022.10:g.32500857C>T , CM000684.1:g.32500857C>T	GRCh37
NC_000022.9:g.30830857C>T	NCBI36
NG_017045.1:g.66839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1750C>T MANE Select	ENSP00000266088.4:p.Pro584Ser
ENST00000266088.8:c.1750C>T	ENSP00000266088.4:p.Pro584Ser
ENST00000543737.2:c.1369C>T	ENSP00000444898.1:p.Pro457Ser
NM_000343.3:c.1750C>T	NP_000334.1:p.Pro584Ser
NM_001256314.1:c.1369C>T	NP_001243243.1:p.Pro457Ser
XR_938173.1:n.591+1968G>A
XR_938174.1:n.486+14985G>A
NM_000343.4:c.1750C>T MANE Select	NP_000334.1:p.Pro584Ser
NM_001256314.2:c.1369C>T	NP_001243243.1:p.Pro457Ser