Canonical Allele Identifier: CA10198309

Gene: SLC5A1

Linked Data

• dbSNP Id: rs200702605
• ExAC: 22:32500847 C / G
• gnomAD v2: 22-32500847-C-G
• MyVariant Identifiers: chr22:g.32500847C>G (hg19) ; chr22:g.32104860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104860C>G , CM000684.2:g.32104860C>G	GRCh38
NC_000022.10:g.32500847C>G , CM000684.1:g.32500847C>G	GRCh37
NC_000022.9:g.30830847C>G	NCBI36
NG_017045.1:g.66829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1740C>G MANE Select	ENSP00000266088.4:p.Ile580Met
ENST00000266088.8:c.1740C>G	ENSP00000266088.4:p.Ile580Met
ENST00000543737.2:c.1359C>G	ENSP00000444898.1:p.Ile453Met
NM_000343.3:c.1740C>G	NP_000334.1:p.Ile580Met
NM_001256314.1:c.1359C>G	NP_001243243.1:p.Ile453Met
XR_938173.1:n.591+1978G>C
XR_938174.1:n.486+14995G>C
NM_000343.4:c.1740C>G MANE Select	NP_000334.1:p.Ile580Met
NM_001256314.2:c.1359C>G	NP_001243243.1:p.Ile453Met