Canonical Allele Identifier: CA323385126

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1049516620
• gnomAD v3: 22-32104787-T-C
• gnomAD v4: 22-32104787-T-C
• MyVariant Identifiers: chr22:g.32500774T>C (hg19) ; chr22:g.32104787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104787T>C , CM000684.2:g.32104787T>C	GRCh38
NC_000022.10:g.32500774T>C , CM000684.1:g.32500774T>C	GRCh37
NC_000022.9:g.30830774T>C	NCBI36
NG_017045.1:g.66756T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1667T>C MANE Select	ENSP00000266088.4:p.Leu556Pro
ENST00000266088.8:c.1667T>C	ENSP00000266088.4:p.Leu556Pro
ENST00000543737.2:c.1286T>C	ENSP00000444898.1:p.Leu429Pro
NM_000343.3:c.1667T>C	NP_000334.1:p.Leu556Pro
NM_001256314.1:c.1286T>C	NP_001243243.1:p.Leu429Pro
XR_938173.1:n.591+2051A>G
XR_938174.1:n.486+15068A>G
NM_000343.4:c.1667T>C MANE Select	NP_000334.1:p.Leu556Pro
NM_001256314.2:c.1286T>C	NP_001243243.1:p.Leu429Pro