Canonical Allele Identifier: CA10198352

Gene: SLC5A1

Linked Data

• ClinVar Variation Id: 341264
• ClinVar RCV Id: RCV000375195 ; RCV000436661
• dbSNP Id: rs61733910
• ExAC: 22:32506051 G / A
• gnomAD v2: 22-32506051-G-A
• gnomAD v3: 22-32110064-G-A
• gnomAD v4: 22-32110064-G-A
• MyVariant Identifiers: chr22:g.32506051G>A (hg19) ; chr22:g.32110064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32110064G>A , CM000684.2:g.32110064G>A	GRCh38
NC_000022.10:g.32506051G>A , CM000684.1:g.32506051G>A	GRCh37
NC_000022.9:g.30836051G>A	NCBI36
NG_017045.1:g.72033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1846G>A MANE Select	ENSP00000266088.4:p.Gly616Ser
ENST00000266088.8:c.1846G>A	ENSP00000266088.4:p.Gly616Ser
ENST00000543737.2:c.1465G>A	ENSP00000444898.1:p.Gly489Ser
NM_000343.3:c.1846G>A	NP_000334.1:p.Gly616Ser
NM_001256314.1:c.1465G>A	NP_001243243.1:p.Gly489Ser
XR_938172.1:n.487-3122C>T
XR_938173.1:n.487-3122C>T
XR_938174.1:n.486+9791C>T
XR_938172.2:n.491-3122C>T
NM_000343.4:c.1846G>A MANE Select	NP_000334.1:p.Gly616Ser
NM_001256314.2:c.1465G>A	NP_001243243.1:p.Gly489Ser