Canonical Allele Identifier: CA2589894012

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2149498123
• gnomAD v3: 22-32104481-A-G
• gnomAD v4: 22-32104481-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104481A>G , CM000684.2:g.32104481A>G	GRCh38
NC_000022.10:g.32500468A>G , CM000684.1:g.32500468A>G	GRCh37
NC_000022.9:g.30830468A>G	NCBI36
NG_017045.1:g.66450A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-305A>G MANE Select	ENSP00000266088.4:n.1666-305A>G
ENST00000266088.8:c.1666-305A>G	ENSP00000266088.4:n.1666-305A>G
ENST00000543737.2:c.1285-305A>G	ENSP00000444898.1:n.1285-305A>G
NM_000343.3:c.1666-305A>G	NP_000334.1:n.1666-305A>G
NM_001256314.1:c.1285-305A>G	NP_001243243.1:n.1285-305A>G
XR_938173.1:n.591+2357T>C
XR_938174.1:n.486+15374T>C
NM_000343.4:c.1666-305A>G MANE Select	NP_000334.1:n.1666-305A>G
NM_001256314.2:c.1285-305A>G	NP_001243243.1:n.1285-305A>G