Canonical Allele Identifier: CA411308862

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32091713G>C , CM000684.2:g.32091713G>C	GRCh38
NC_000022.10:g.32487700G>C , CM000684.1:g.32487700G>C	GRCh37
NC_000022.9:g.30817700G>C	NCBI36
NG_017045.1:g.53682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1231G>C MANE Select	ENSP00000266088.4:p.Ala411Pro
ENST00000266088.8:c.1231G>C	ENSP00000266088.4:p.Ala411Pro
ENST00000477969.1:n.397G>C
ENST00000543737.2:c.850G>C	ENSP00000444898.1:p.Ala284Pro
NM_000343.3:c.1231G>C	NP_000334.1:p.Ala411Pro
NM_001256314.1:c.850G>C	NP_001243243.1:p.Ala284Pro
XM_011530331.1:c.1231G>C	XP_011528633.1:p.Ala411Pro
XR_938173.1:n.591+15125C>G
XR_938174.1:n.487-22910C>G
NM_000343.4:c.1231G>C MANE Select	NP_000334.1:p.Ala411Pro
NM_001256314.2:c.850G>C	NP_001243243.1:p.Ala284Pro