Canonical Allele Identifier: CA1819213

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108010790dup , CM000664.2:g.108010790dup	GRCh38
NC_000002.11:g.108627246dup , CM000664.1:g.108627246dup	GRCh37
NC_000002.10:g.107993678dup	NCBI36
NG_042267.1:g.29277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264047.3:c.1672dup MANE Select	ENSP00000264047.2:p.Thr558AsnfsTer3
ENST00000264047.2:c.1672dup	ENSP00000264047.2:p.Thr558AsnfsTer3
ENST00000409059.5:c.1672dup	ENSP00000387346.1:p.Thr558AsnfsTer3
NM_001305005.1:c.1672dup	NP_001291934.1:p.Thr558AsnfsTer3
NM_001305005.2:c.1672dup	NP_001291934.1:p.Thr558AsnfsTer3
NM_001305006.1:c.1357dup	NP_001291935.1:p.Thr453AsnfsTer3
NM_001305006.2:c.1357dup	NP_001291935.1:p.Thr453AsnfsTer3
NM_001305007.1:c.931dup	NP_001291936.1:p.Thr311AsnfsTer3
NM_001305007.2:c.931dup	NP_001291936.1:p.Thr311AsnfsTer3
NM_021815.3:c.1672dup	NP_068587.1:p.Thr558AsnfsTer3
NM_021815.4:c.1672dup	NP_068587.1:p.Thr558AsnfsTer3
XM_011511579.1:c.1558dup	XP_011509881.1:p.Thr520AsnfsTer3
XM_011511580.1:c.1420dup	XP_011509882.1:p.Thr474AsnfsTer3
XM_011511581.1:c.1357dup	XP_011509883.1:p.Thr453AsnfsTer3
XM_011511580.2:c.1420dup	XP_011509882.1:p.Thr474AsnfsTer3
XM_017004628.1:c.1558dup	XP_016860117.1:p.Thr520AsnfsTer3
XM_017004629.2:c.1357dup	XP_016860118.1:p.Thr453AsnfsTer3
NM_001305005.3:c.1672dup	NP_001291934.1:p.Thr558AsnfsTer3
NM_001305006.3:c.1357dup	NP_001291935.1:p.Thr453AsnfsTer3
NM_001305007.3:c.931dup	NP_001291936.1:p.Thr311AsnfsTer3
NM_021815.5:c.1672dup MANE Select	NP_068587.1:p.Thr558AsnfsTer3