Canonical Allele Identifier: CA639080574

Gene: SLC5A1

Linked Data

• dbSNP Id: rs199997532
• gnomAD v2: 22-32500900-A-G
• gnomAD v4: 22-32104913-A-G
• MyVariant Identifiers: chr22:g.32500900A>G (hg19) ; chr22:g.32104913A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104913A>G , CM000684.2:g.32104913A>G	GRCh38
NC_000022.10:g.32500900A>G , CM000684.1:g.32500900A>G	GRCh37
NC_000022.9:g.30830900A>G	NCBI36
NG_017045.1:g.66882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1771+22A>G MANE Select	ENSP00000266088.4:n.1771+22A>G
ENST00000266088.8:c.1771+22A>G	ENSP00000266088.4:n.1771+22A>G
ENST00000543737.2:c.1390+22A>G	ENSP00000444898.1:n.1390+22A>G
NM_000343.3:c.1771+22A>G	NP_000334.1:n.1771+22A>G
NM_001256314.1:c.1390+22A>G	NP_001243243.1:n.1390+22A>G
XR_938173.1:n.591+1925T>C
XR_938174.1:n.486+14942T>C
NM_000343.4:c.1771+22A>G MANE Select	NP_000334.1:n.1771+22A>G
NM_001256314.2:c.1390+22A>G	NP_001243243.1:n.1390+22A>G