Canonical Allele Identifier: CA348020614

Gene: SLC5A7

Linked Data

• ClinVar Variation Id: 2058634
• ClinVar RCV Id: RCV002928618
• gnomAD v4: 2-107992205-T-G
• MyVariant Identifiers: chr2:g.108608661T>G (hg19) ; chr2:g.107992205T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.107992205T>G , CM000664.2:g.107992205T>G	GRCh38
NC_000002.11:g.108608661T>G , CM000664.1:g.108608661T>G	GRCh37
NC_000002.10:g.107975093T>G	NCBI36
NG_042267.1:g.10692T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264047.3:c.278T>G MANE Select	ENSP00000264047.2:p.Leu93Arg
ENST00000264047.2:c.278T>G	ENSP00000264047.2:p.Leu93Arg
ENST00000409059.5:c.278T>G	ENSP00000387346.1:p.Leu93Arg
NM_001305005.1:c.278T>G	NP_001291934.1:p.Leu93Arg
NM_001305005.2:c.278T>G	NP_001291934.1:p.Leu93Arg
NM_001305006.1:c.-38T>G	NP_001291935.1:n.-38T>G
NM_001305006.2:c.-38T>G	NP_001291935.1:n.-38T>G
NM_001305007.1:c.-427T>G	NP_001291936.1:n.-427T>G
NM_001305007.2:c.-427T>G	NP_001291936.1:n.-427T>G
NM_021815.3:c.278T>G	NP_068587.1:p.Leu93Arg
NM_021815.4:c.278T>G	NP_068587.1:p.Leu93Arg
XM_011511579.1:c.179-767T>G	XP_011509881.1:n.179-767T>G
XM_017004628.1:c.179-767T>G	XP_016860117.1:n.179-767T>G
XM_017004629.2:c.-53T>G	XP_016860118.1:n.-53T>G
NM_001305005.3:c.278T>G	NP_001291934.1:p.Leu93Arg
NM_001305006.3:c.-38T>G	NP_001291935.1:n.-38T>G
NM_001305007.3:c.-427T>G	NP_001291936.1:n.-427T>G
NM_021815.5:c.278T>G MANE Select	NP_068587.1:p.Leu93Arg