Canonical Allele Identifier: CA427884466
Gene: SLC5A7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.108608653A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.107992197A>G , CM000664.2:g.107992197A>G GRCh38
NC_000002.11:g.108608653A>G , CM000664.1:g.108608653A>G GRCh37
NC_000002.10:g.107975085A>G NCBI36
NG_042267.1:g.10684A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264047.3:c.270A>G MANE Select ENSP00000264047.2:p.Gly90=
ENST00000264047.2:c.270A>G ENSP00000264047.2:p.Gly90=
ENST00000409059.5:c.270A>G ENSP00000387346.1:p.Gly90=
NM_001305005.1:c.270A>G NP_001291934.1:p.Gly90=
NM_001305005.2:c.270A>G NP_001291934.1:p.Gly90=
NM_001305006.1:c.-46A>G NP_001291935.1:n.-46A>G
NM_001305006.2:c.-46A>G NP_001291935.1:n.-46A>G
NM_001305007.1:c.-435A>G NP_001291936.1:n.-435A>G
NM_001305007.2:c.-435A>G NP_001291936.1:n.-435A>G
NM_021815.3:c.270A>G NP_068587.1:p.Gly90=
NM_021815.4:c.270A>G NP_068587.1:p.Gly90=
XM_011511579.1:c.179-775A>G XP_011509881.1:n.179-775A>G
XM_017004628.1:c.179-775A>G XP_016860117.1:n.179-775A>G
XM_017004629.2:c.-61A>G XP_016860118.1:n.-61A>G
NM_001305005.3:c.270A>G NP_001291934.1:p.Gly90=
NM_001305006.3:c.-46A>G NP_001291935.1:n.-46A>G
NM_001305007.3:c.-435A>G NP_001291936.1:n.-435A>G
NM_021815.5:c.270A>G MANE Select NP_068587.1:p.Gly90=