Canonical Allele Identifier: CA514277424

Gene: SLC5A1

Linked Data

• dbSNP Id: rs2094042290
• gnomAD v3: 22-32104800-T-C
• gnomAD v4: 22-32104800-T-C
• MyVariant Identifiers: chr22:g.32500787T>C (hg19)
• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104800T>C , CM000684.2:g.32104800T>C	GRCh38
NC_000022.10:g.32500787T>C , CM000684.1:g.32500787T>C	GRCh37
NC_000022.9:g.30830787T>C	NCBI36
NG_017045.1:g.66769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1680T>C MANE Select	ENSP00000266088.4:p.Cys560=
ENST00000266088.8:c.1680T>C	ENSP00000266088.4:p.Cys560=
ENST00000543737.2:c.1299T>C	ENSP00000444898.1:p.Cys433=
NM_000343.3:c.1680T>C	NP_000334.1:p.Cys560=
NM_001256314.1:c.1299T>C	NP_001243243.1:p.Cys433=
XR_938173.1:n.591+2038A>G
XR_938174.1:n.486+15055A>G
NM_000343.4:c.1680T>C MANE Select	NP_000334.1:p.Cys560=
NM_001256314.2:c.1299T>C	NP_001243243.1:p.Cys433=