Canonical Allele Identifier: CA348020526

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.107992163G>T , CM000664.2:g.107992163G>T	GRCh38
NC_000002.11:g.108608619G>T , CM000664.1:g.108608619G>T	GRCh37
NC_000002.10:g.107975051G>T	NCBI36
NG_042267.1:g.10650G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021815.5:c.236G>T MANE Select	NP_068587.1:p.Gly79Val
ENST00000264047.3:c.236G>T MANE Select	ENSP00000264047.2:p.Gly79Val
NM_001305005.1:c.236G>T	NP_001291934.1:p.Gly79Val
NM_001305005.2:c.236G>T	NP_001291934.1:p.Gly79Val
NM_001305005.3:c.236G>T	NP_001291934.1:p.Gly79Val
NM_001305006.1:c.-80G>T	NP_001291935.1:n.-80G>T
NM_001305006.2:c.-80G>T	NP_001291935.1:n.-80G>T
NM_001305006.3:c.-80G>T	NP_001291935.1:n.-80G>T
NM_001305007.1:c.-469G>T	NP_001291936.1:n.-469G>T
NM_001305007.2:c.-469G>T	NP_001291936.1:n.-469G>T
NM_001305007.3:c.-469G>T	NP_001291936.1:n.-469G>T
NM_021815.3:c.236G>T	NP_068587.1:p.Gly79Val
NM_021815.4:c.236G>T	NP_068587.1:p.Gly79Val
ENST00000264047.2:c.236G>T	ENSP00000264047.2:p.Gly79Val
ENST00000409059.5:c.236G>T	ENSP00000387346.1:p.Gly79Val
XM_011511579.1:c.179-809G>T	XP_011509881.1:n.179-809G>T
XM_017004628.1:c.179-809G>T	XP_016860117.1:n.179-809G>T
XM_017004629.2:c.-95G>T	XP_016860118.1:n.-95G>T