Canonical Allele Identifier: CA323385310

Gene: SLC5A1

Linked Data

• dbSNP Id: rs199727071
• gnomAD v4: 22-32104885-G-C
• MyVariant Identifiers: chr22:g.32500872G>C (hg19) ; chr22:g.32104885G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104885G>C , CM000684.2:g.32104885G>C	GRCh38
NC_000022.10:g.32500872G>C , CM000684.1:g.32500872G>C	GRCh37
NC_000022.9:g.30830872G>C	NCBI36
NG_017045.1:g.66854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1765G>C MANE Select	ENSP00000266088.4:p.Glu589Gln
ENST00000266088.8:c.1765G>C	ENSP00000266088.4:p.Glu589Gln
ENST00000543737.2:c.1384G>C	ENSP00000444898.1:p.Glu462Gln
NM_000343.3:c.1765G>C	NP_000334.1:p.Glu589Gln
NM_001256314.1:c.1384G>C	NP_001243243.1:p.Glu462Gln
XR_938173.1:n.591+1953C>G
XR_938174.1:n.486+14970C>G
NM_000343.4:c.1765G>C MANE Select	NP_000334.1:p.Glu589Gln
NM_001256314.2:c.1384G>C	NP_001243243.1:p.Glu462Gln