Canonical Allele Identifier: CA10198295

Gene: SLC5A1

Linked Data

• dbSNP Id: rs753459873
• ExAC: 22:32500773 C / T
• gnomAD v2: 22-32500773-C-T
• MyVariant Identifiers: chr22:g.32500773C>T (hg19) ; chr22:g.32104786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104786C>T , CM000684.2:g.32104786C>T	GRCh38
NC_000022.10:g.32500773C>T , CM000684.1:g.32500773C>T	GRCh37
NC_000022.9:g.30830773C>T	NCBI36
NG_017045.1:g.66755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1666C>T MANE Select	ENSP00000266088.4:p.Leu556Phe
ENST00000266088.8:c.1666C>T	ENSP00000266088.4:p.Leu556Phe
ENST00000543737.2:c.1285C>T	ENSP00000444898.1:p.Leu429Phe
NM_000343.3:c.1666C>T	NP_000334.1:p.Leu556Phe
NM_001256314.1:c.1285C>T	NP_001243243.1:p.Leu429Phe
XR_938173.1:n.591+2052G>A
XR_938174.1:n.486+15069G>A
NM_000343.4:c.1666C>T MANE Select	NP_000334.1:p.Leu556Phe
NM_001256314.2:c.1285C>T	NP_001243243.1:p.Leu429Phe