Canonical Allele Identifier: CA53409107

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.107992477C>G , CM000664.2:g.107992477C>G	GRCh38
NC_000002.11:g.108608933C>G , CM000664.1:g.108608933C>G	GRCh37
NC_000002.10:g.107975365C>G	NCBI36
NG_042267.1:g.10964C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021815.5:c.292+258C>G MANE Select	NP_068587.1:n.292+258C>G
ENST00000264047.3:c.292+258C>G MANE Select	ENSP00000264047.2:n.292+258C>G
NM_001305005.1:c.292+258C>G	NP_001291934.1:n.292+258C>G
NM_001305005.2:c.292+258C>G	NP_001291934.1:n.292+258C>G
NM_001305005.3:c.292+258C>G	NP_001291934.1:n.292+258C>G
NM_001305006.1:c.-24+258C>G	NP_001291935.1:n.-24+258C>G
NM_001305006.2:c.-24+258C>G	NP_001291935.1:n.-24+258C>G
NM_001305006.3:c.-24+258C>G	NP_001291935.1:n.-24+258C>G
NM_001305007.1:c.-413+258C>G	NP_001291936.1:n.-413+258C>G
NM_001305007.2:c.-413+258C>G	NP_001291936.1:n.-413+258C>G
NM_001305007.3:c.-413+258C>G	NP_001291936.1:n.-413+258C>G
NM_021815.3:c.292+258C>G	NP_068587.1:n.292+258C>G
NM_021815.4:c.292+258C>G	NP_068587.1:n.292+258C>G
ENST00000264047.2:c.292+258C>G	ENSP00000264047.2:n.292+258C>G
ENST00000409059.5:c.292+258C>G	ENSP00000387346.1:n.292+258C>G
XM_011511579.1:c.179-495C>G	XP_011509881.1:n.179-495C>G
XM_011511580.1:c.40+108C>G	XP_011509882.1:n.40+108C>G
XM_011511580.2:c.40+108C>G	XP_011509882.1:n.40+108C>G
XM_011511581.1:c.-39+108C>G	XP_011509883.1:n.-39+108C>G
XM_017004628.1:c.179-495C>G	XP_016860117.1:n.179-495C>G
XM_017004629.2:c.-39+258C>G	XP_016860118.1:n.-39+258C>G