Canonical Allele Identifier: CA3890447

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73635477G>T , CM000668.2:g.73635477G>T	GRCh38
NC_000006.11:g.74345200G>T , CM000668.1:g.74345200G>T	GRCh37
NC_000006.10:g.74401921G>T	NCBI36
NG_008272.1:g.23538C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.724C>A MANE Select	NP_036566.1:p.Leu242Ile
ENST00000355773.6:c.724C>A MANE Select	ENSP00000348019.5:p.Leu242Ile
NM_001382629.1:c.493C>A	NP_001369558.1:p.Leu165Ile
NM_001382630.1:c.724C>A	NP_001369559.1:p.Leu242Ile
NM_001382631.1:c.745C>A	NP_001369560.1:p.Leu249Ile
NM_001382632.1:c.637C>A	NP_001369561.1:p.Leu213Ile
NM_001382633.1:c.724C>A	NP_001369562.1:p.Leu242Ile
NM_001382634.1:c.724C>A	NP_001369563.1:p.Leu242Ile
NM_001382635.1:c.721C>A	NP_001369564.1:p.Leu241Ile
NM_001382636.1:c.406C>A	NP_001369565.1:p.Leu136Ile
NM_012434.4:c.724C>A	NP_036566.1:p.Leu242Ile
ENST00000355773.5:c.724C>A	ENSP00000348019.5:p.Leu242Ile
ENST00000481996.1:n.490C>A
XM_005248710.2:c.673C>A	XP_005248767.1:p.Leu225Ile
XM_005248711.1:c.526C>A	XP_005248768.1:p.Leu176Ile
XM_011535750.1:c.724C>A	XP_011534052.1:p.Leu242Ile
XM_011535751.1:c.724C>A	XP_011534053.1:p.Leu242Ile