Canonical Allele Identifier: CA1818971
Community Standard Title: NM_021815.5(SLC5A7):c.449-11G>A
Gene: SLC5A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.107997827G>A , CM000664.2:g.107997827G>A GRCh38
NC_000002.11:g.108614283G>A , CM000664.1:g.108614283G>A GRCh37
NC_000002.10:g.107980715G>A NCBI36
NG_042267.1:g.16314G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021815.5:c.449-11G>A MANE Select NP_068587.1:n.449-11G>A
ENST00000264047.3:c.449-11G>A MANE Select ENSP00000264047.2:n.449-11G>A
NM_001305005.1:c.449-11G>A NP_001291934.1:n.449-11G>A
NM_001305005.2:c.449-11G>A NP_001291934.1:n.449-11G>A
NM_001305005.3:c.449-11G>A NP_001291934.1:n.449-11G>A
NM_001305006.1:c.134-11G>A NP_001291935.1:n.134-11G>A
NM_001305006.2:c.134-11G>A NP_001291935.1:n.134-11G>A
NM_001305006.3:c.134-11G>A NP_001291935.1:n.134-11G>A
NM_001305007.1:c.-256-11G>A NP_001291936.1:n.-256-11G>A
NM_001305007.2:c.-256-11G>A NP_001291936.1:n.-256-11G>A
NM_001305007.3:c.-256-11G>A NP_001291936.1:n.-256-11G>A
NM_021815.3:c.449-11G>A NP_068587.1:n.449-11G>A
NM_021815.4:c.449-11G>A NP_068587.1:n.449-11G>A
ENST00000264047.2:c.449-11G>A ENSP00000264047.2:n.449-11G>A
ENST00000409059.5:c.449-11G>A ENSP00000387346.1:n.449-11G>A
XM_011511579.1:c.335-11G>A XP_011509881.1:n.335-11G>A
XM_011511580.1:c.197-11G>A XP_011509882.1:n.197-11G>A
XM_011511580.2:c.197-11G>A XP_011509882.1:n.197-11G>A
XM_011511581.1:c.134-11G>A XP_011509883.1:n.134-11G>A
XM_017004628.1:c.335-11G>A XP_016860117.1:n.335-11G>A
XM_017004629.2:c.134-11G>A XP_016860118.1:n.134-11G>A