Canonical Allele Identifier: CA348113865

Gene: SLC5A7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108008684T>A , CM000664.2:g.108008684T>A	GRCh38
NC_000002.11:g.108625140T>A , CM000664.1:g.108625140T>A	GRCh37
NC_000002.10:g.107991572T>A	NCBI36
NG_042267.1:g.27171T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021815.5:c.1113+2T>A MANE Select	NP_068587.1:n.1113+2T>A
ENST00000264047.3:c.1113+2T>A MANE Select	ENSP00000264047.2:n.1113+2T>A
NM_001305005.1:c.1113+2T>A	NP_001291934.1:n.1113+2T>A
NM_001305005.2:c.1113+2T>A	NP_001291934.1:n.1113+2T>A
NM_001305005.3:c.1113+2T>A	NP_001291934.1:n.1113+2T>A
NM_001305006.1:c.798+2T>A	NP_001291935.1:n.798+2T>A
NM_001305006.2:c.798+2T>A	NP_001291935.1:n.798+2T>A
NM_001305006.3:c.798+2T>A	NP_001291935.1:n.798+2T>A
NM_001305007.1:c.372+2T>A	NP_001291936.1:n.372+2T>A
NM_001305007.2:c.372+2T>A	NP_001291936.1:n.372+2T>A
NM_001305007.3:c.372+2T>A	NP_001291936.1:n.372+2T>A
NM_021815.3:c.1113+2T>A	NP_068587.1:n.1113+2T>A
NM_021815.4:c.1113+2T>A	NP_068587.1:n.1113+2T>A
ENST00000264047.2:c.1113+2T>A	ENSP00000264047.2:n.1113+2T>A
ENST00000409059.5:c.1113+2T>A	ENSP00000387346.1:n.1113+2T>A
XM_011511579.1:c.999+2T>A	XP_011509881.1:n.999+2T>A
XM_011511580.1:c.861+2T>A	XP_011509882.1:n.861+2T>A
XM_011511580.2:c.861+2T>A	XP_011509882.1:n.861+2T>A
XM_011511581.1:c.798+2T>A	XP_011509883.1:n.798+2T>A
XM_017004628.1:c.999+2T>A	XP_016860117.1:n.999+2T>A
XM_017004629.2:c.798+2T>A	XP_016860118.1:n.798+2T>A