Canonical Allele Identifier: CA323385314

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1038003566
• gnomAD v4: 22-32104896-C-T
• MyVariant Identifiers: chr22:g.32500883C>T (hg19) ; chr22:g.32104896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104896C>T , CM000684.2:g.32104896C>T	GRCh38
NC_000022.10:g.32500883C>T , CM000684.1:g.32500883C>T	GRCh37
NC_000022.9:g.30830883C>T	NCBI36
NG_017045.1:g.66865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1771+5C>T MANE Select	ENSP00000266088.4:n.1771+5C>T
ENST00000266088.8:c.1771+5C>T	ENSP00000266088.4:n.1771+5C>T
ENST00000543737.2:c.1390+5C>T	ENSP00000444898.1:n.1390+5C>T
NM_000343.3:c.1771+5C>T	NP_000334.1:n.1771+5C>T
NM_001256314.1:c.1390+5C>T	NP_001243243.1:n.1390+5C>T
XR_938173.1:n.591+1942G>A
XR_938174.1:n.486+14959G>A
NM_000343.4:c.1771+5C>T MANE Select	NP_000334.1:n.1771+5C>T
NM_001256314.2:c.1390+5C>T	NP_001243243.1:n.1390+5C>T