Canonical Allele Identifier: CA427884482

Gene: SLC5A7

Linked Data

• MyVariant Identifiers: chr2:g.108608659T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.107992203T>A , CM000664.2:g.107992203T>A	GRCh38
NC_000002.11:g.108608659T>A , CM000664.1:g.108608659T>A	GRCh37
NC_000002.10:g.107975091T>A	NCBI36
NG_042267.1:g.10690T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264047.3:c.276T>A MANE Select	ENSP00000264047.2:p.Ser92=
ENST00000264047.2:c.276T>A	ENSP00000264047.2:p.Ser92=
ENST00000409059.5:c.276T>A	ENSP00000387346.1:p.Ser92=
NM_001305005.1:c.276T>A	NP_001291934.1:p.Ser92=
NM_001305005.2:c.276T>A	NP_001291934.1:p.Ser92=
NM_001305006.1:c.-40T>A	NP_001291935.1:n.-40T>A
NM_001305006.2:c.-40T>A	NP_001291935.1:n.-40T>A
NM_001305007.1:c.-429T>A	NP_001291936.1:n.-429T>A
NM_001305007.2:c.-429T>A	NP_001291936.1:n.-429T>A
NM_021815.3:c.276T>A	NP_068587.1:p.Ser92=
NM_021815.4:c.276T>A	NP_068587.1:p.Ser92=
XM_011511579.1:c.179-769T>A	XP_011509881.1:n.179-769T>A
XM_017004628.1:c.179-769T>A	XP_016860117.1:n.179-769T>A
XM_017004629.2:c.-55T>A	XP_016860118.1:n.-55T>A
NM_001305005.3:c.276T>A	NP_001291934.1:p.Ser92=
NM_001305006.3:c.-40T>A	NP_001291935.1:n.-40T>A
NM_001305007.3:c.-429T>A	NP_001291936.1:n.-429T>A
NM_021815.5:c.276T>A MANE Select	NP_068587.1:p.Ser92=