Canonical Allele Identifier: CA348114022

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108010299C>G , CM000664.2:g.108010299C>G	GRCh38
NC_000002.11:g.108626755C>G , CM000664.1:g.108626755C>G	GRCh37
NC_000002.10:g.107993187C>G	NCBI36
NG_042267.1:g.28786C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264047.3:c.1181C>G MANE Select	ENSP00000264047.2:p.Ala394Gly
ENST00000264047.2:c.1181C>G	ENSP00000264047.2:p.Ala394Gly
ENST00000409059.5:c.1181C>G	ENSP00000387346.1:p.Ala394Gly
NM_001305005.1:c.1181C>G	NP_001291934.1:p.Ala394Gly
NM_001305005.2:c.1181C>G	NP_001291934.1:p.Ala394Gly
NM_001305006.1:c.866C>G	NP_001291935.1:p.Ala289Gly
NM_001305006.2:c.866C>G	NP_001291935.1:p.Ala289Gly
NM_001305007.1:c.440C>G	NP_001291936.1:p.Ala147Gly
NM_001305007.2:c.440C>G	NP_001291936.1:p.Ala147Gly
NM_021815.3:c.1181C>G	NP_068587.1:p.Ala394Gly
NM_021815.4:c.1181C>G	NP_068587.1:p.Ala394Gly
XM_011511579.1:c.1067C>G	XP_011509881.1:p.Ala356Gly
XM_011511580.1:c.929C>G	XP_011509882.1:p.Ala310Gly
XM_011511581.1:c.866C>G	XP_011509883.1:p.Ala289Gly
XM_011511580.2:c.929C>G	XP_011509882.1:p.Ala310Gly
XM_017004628.1:c.1067C>G	XP_016860117.1:p.Ala356Gly
XM_017004629.2:c.866C>G	XP_016860118.1:p.Ala289Gly
NM_001305005.3:c.1181C>G	NP_001291934.1:p.Ala394Gly
NM_001305006.3:c.866C>G	NP_001291935.1:p.Ala289Gly
NM_001305007.3:c.440C>G	NP_001291936.1:p.Ala147Gly
NM_021815.5:c.1181C>G MANE Select	NP_068587.1:p.Ala394Gly