Canonical Allele Identifier: CA10198310

Gene: SLC5A1

Linked Data

• dbSNP Id: rs765947220
• ExAC: 22:32500848 C / G
• gnomAD v2: 22-32500848-C-G
• gnomAD v4: 22-32104861-C-G
• MyVariant Identifiers: chr22:g.32500848C>G (hg19) ; chr22:g.32104861C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104861C>G , CM000684.2:g.32104861C>G	GRCh38
NC_000022.10:g.32500848C>G , CM000684.1:g.32500848C>G	GRCh37
NC_000022.9:g.30830848C>G	NCBI36
NG_017045.1:g.66830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1741C>G MANE Select	ENSP00000266088.4:p.Gln581Glu
ENST00000266088.8:c.1741C>G	ENSP00000266088.4:p.Gln581Glu
ENST00000543737.2:c.1360C>G	ENSP00000444898.1:p.Gln454Glu
NM_000343.3:c.1741C>G	NP_000334.1:p.Gln581Glu
NM_001256314.1:c.1360C>G	NP_001243243.1:p.Gln454Glu
XR_938173.1:n.591+1977G>C
XR_938174.1:n.486+14994G>C
NM_000343.4:c.1741C>G MANE Select	NP_000334.1:p.Gln581Glu
NM_001256314.2:c.1360C>G	NP_001243243.1:p.Gln454Glu