Canonical Allele Identifier: CA348112916

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108001993G>A , CM000664.2:g.108001993G>A	GRCh38
NC_000002.11:g.108618449G>A , CM000664.1:g.108618449G>A	GRCh37
NC_000002.10:g.107984881G>A	NCBI36
NG_042267.1:g.20480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264047.3:c.694G>A MANE Select	ENSP00000264047.2:p.Val232Ile
ENST00000264047.2:c.694G>A	ENSP00000264047.2:p.Val232Ile
ENST00000409059.5:c.694G>A	ENSP00000387346.1:p.Val232Ile
NM_001305005.1:c.694G>A	NP_001291934.1:p.Val232Ile
NM_001305005.2:c.694G>A	NP_001291934.1:p.Val232Ile
NM_001305006.1:c.379G>A	NP_001291935.1:p.Val127Ile
NM_001305006.2:c.379G>A	NP_001291935.1:p.Val127Ile
NM_001305007.1:c.-48G>A	NP_001291936.1:n.-48G>A
NM_001305007.2:c.-48G>A	NP_001291936.1:n.-48G>A
NM_021815.3:c.694G>A	NP_068587.1:p.Val232Ile
NM_021815.4:c.694G>A	NP_068587.1:p.Val232Ile
XM_011511579.1:c.580G>A	XP_011509881.1:p.Val194Ile
XM_011511580.1:c.442G>A	XP_011509882.1:p.Val148Ile
XM_011511581.1:c.379G>A	XP_011509883.1:p.Val127Ile
XM_011511580.2:c.442G>A	XP_011509882.1:p.Val148Ile
XM_017004628.1:c.580G>A	XP_016860117.1:p.Val194Ile
XM_017004629.2:c.379G>A	XP_016860118.1:p.Val127Ile
NM_001305005.3:c.694G>A	NP_001291934.1:p.Val232Ile
NM_001305006.3:c.379G>A	NP_001291935.1:p.Val127Ile
NM_001305007.3:c.-48G>A	NP_001291936.1:n.-48G>A
NM_021815.5:c.694G>A MANE Select	NP_068587.1:p.Val232Ile