Canonical Allele Identifier: CA1819149

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108010355G>A , CM000664.2:g.108010355G>A	GRCh38
NC_000002.11:g.108626811G>A , CM000664.1:g.108626811G>A	GRCh37
NC_000002.10:g.107993243G>A	NCBI36
NG_042267.1:g.28842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264047.3:c.1237G>A MANE Select	ENSP00000264047.2:p.Val413Ile
ENST00000264047.2:c.1237G>A	ENSP00000264047.2:p.Val413Ile
ENST00000409059.5:c.1237G>A	ENSP00000387346.1:p.Val413Ile
NM_001305005.1:c.1237G>A	NP_001291934.1:p.Val413Ile
NM_001305005.2:c.1237G>A	NP_001291934.1:p.Val413Ile
NM_001305006.1:c.922G>A	NP_001291935.1:p.Val308Ile
NM_001305006.2:c.922G>A	NP_001291935.1:p.Val308Ile
NM_001305007.1:c.496G>A	NP_001291936.1:p.Val166Ile
NM_001305007.2:c.496G>A	NP_001291936.1:p.Val166Ile
NM_021815.3:c.1237G>A	NP_068587.1:p.Val413Ile
NM_021815.4:c.1237G>A	NP_068587.1:p.Val413Ile
XM_011511579.1:c.1123G>A	XP_011509881.1:p.Val375Ile
XM_011511580.1:c.985G>A	XP_011509882.1:p.Val329Ile
XM_011511581.1:c.922G>A	XP_011509883.1:p.Val308Ile
XM_011511580.2:c.985G>A	XP_011509882.1:p.Val329Ile
XM_017004628.1:c.1123G>A	XP_016860117.1:p.Val375Ile
XM_017004629.2:c.922G>A	XP_016860118.1:p.Val308Ile
NM_001305005.3:c.1237G>A	NP_001291934.1:p.Val413Ile
NM_001305006.3:c.922G>A	NP_001291935.1:p.Val308Ile
NM_001305007.3:c.496G>A	NP_001291936.1:p.Val166Ile
NM_021815.5:c.1237G>A MANE Select	NP_068587.1:p.Val413Ile