Canonical Allele Identifier: CA752477534

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1236023263
• gnomAD v4: 22-32104732-T-C
• MyVariant Identifiers: chr22:g.32500719T>C (hg19) ; chr22:g.32104732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104732T>C , CM000684.2:g.32104732T>C	GRCh38
NC_000022.10:g.32500719T>C , CM000684.1:g.32500719T>C	GRCh37
NC_000022.9:g.30830719T>C	NCBI36
NG_017045.1:g.66701T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666-54T>C MANE Select	ENSP00000266088.4:n.1666-54T>C
ENST00000266088.8:c.1666-54T>C	ENSP00000266088.4:n.1666-54T>C
ENST00000543737.2:c.1285-54T>C	ENSP00000444898.1:n.1285-54T>C
NM_000343.3:c.1666-54T>C	NP_000334.1:n.1666-54T>C
NM_001256314.1:c.1285-54T>C	NP_001243243.1:n.1285-54T>C
XR_938173.1:n.591+2106A>G
XR_938174.1:n.486+15123A>G
NM_000343.4:c.1666-54T>C MANE Select	NP_000334.1:n.1666-54T>C
NM_001256314.2:c.1285-54T>C	NP_001243243.1:n.1285-54T>C