Canonical Allele Identifier: CA364715881

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73635411C>A , CM000668.2:g.73635411C>A	GRCh38
NC_000006.11:g.74345134C>A , CM000668.1:g.74345134C>A	GRCh37
NC_000006.10:g.74401855C>A	NCBI36
NG_008272.1:g.23604G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.790G>T MANE Select	NP_036566.1:p.Glu264Ter
ENST00000355773.6:c.790G>T MANE Select	ENSP00000348019.5:p.Glu264Ter
NM_001382629.1:c.559G>T	NP_001369558.1:p.Glu187Ter
NM_001382630.1:c.790G>T	NP_001369559.1:p.Glu264Ter
NM_001382631.1:c.811G>T	NP_001369560.1:p.Glu271Ter
NM_001382632.1:c.703G>T	NP_001369561.1:p.Glu235Ter
NM_001382633.1:c.790G>T	NP_001369562.1:p.Glu264Ter
NM_001382634.1:c.790G>T	NP_001369563.1:p.Glu264Ter
NM_001382635.1:c.787G>T	NP_001369564.1:p.Glu263Ter
NM_001382636.1:c.472G>T	NP_001369565.1:p.Glu158Ter
NM_012434.4:c.790G>T	NP_036566.1:p.Glu264Ter
ENST00000355773.5:c.790G>T	ENSP00000348019.5:p.Glu264Ter
ENST00000481996.1:n.556G>T
XM_005248710.2:c.739G>T	XP_005248767.1:p.Glu247Ter
XM_005248711.1:c.592G>T	XP_005248768.1:p.Glu198Ter
XM_011535750.1:c.790G>T	XP_011534052.1:p.Glu264Ter
XM_011535751.1:c.790G>T	XP_011534053.1:p.Glu264Ter