Canonical Allele Identifier: CA323375641

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32084539C>G , CM000684.2:g.32084539C>G	GRCh38
NC_000022.10:g.32480526C>G , CM000684.1:g.32480526C>G	GRCh37
NC_000022.9:g.30810526C>G	NCBI36
NG_017045.1:g.46508C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.765C>G MANE Select	NP_000334.1:p.Cys255Trp
ENST00000266088.9:c.765C>G MANE Select	ENSP00000266088.4:p.Cys255Trp
NM_000343.3:c.765C>G	NP_000334.1:p.Cys255Trp
NM_001256314.1:c.384C>G	NP_001243243.1:p.Cys128Trp
NM_001256314.2:c.384C>G	NP_001243243.1:p.Cys128Trp
ENST00000266088.8:c.765C>G	ENSP00000266088.4:p.Cys255Trp
ENST00000486394.1:n.205C>G
ENST00000543737.2:c.384C>G	ENSP00000444898.1:p.Cys128Trp
XM_011530331.1:c.765C>G	XP_011528633.1:p.Cys255Trp
XR_938173.1:n.592-15736G>C
XR_938174.1:n.487-15736G>C