Canonical Allele Identifier: CA364715911

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73635415T>G , CM000668.2:g.73635415T>G	GRCh38
NC_000006.11:g.74345138T>G , CM000668.1:g.74345138T>G	GRCh37
NC_000006.10:g.74401859T>G	NCBI36
NG_008272.1:g.23600A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.786A>C MANE Select	NP_036566.1:p.Glu262Asp
ENST00000355773.6:c.786A>C MANE Select	ENSP00000348019.5:p.Glu262Asp
NM_001382629.1:c.555A>C	NP_001369558.1:p.Glu185Asp
NM_001382630.1:c.786A>C	NP_001369559.1:p.Glu262Asp
NM_001382631.1:c.807A>C	NP_001369560.1:p.Glu269Asp
NM_001382632.1:c.699A>C	NP_001369561.1:p.Glu233Asp
NM_001382633.1:c.786A>C	NP_001369562.1:p.Glu262Asp
NM_001382634.1:c.786A>C	NP_001369563.1:p.Glu262Asp
NM_001382635.1:c.783A>C	NP_001369564.1:p.Glu261Asp
NM_001382636.1:c.468A>C	NP_001369565.1:p.Glu156Asp
NM_012434.4:c.786A>C	NP_036566.1:p.Glu262Asp
ENST00000355773.5:c.786A>C	ENSP00000348019.5:p.Glu262Asp
ENST00000481996.1:n.552A>C
XM_005248710.2:c.735A>C	XP_005248767.1:p.Glu245Asp
XM_005248711.1:c.588A>C	XP_005248768.1:p.Glu196Asp
XM_011535750.1:c.786A>C	XP_011534052.1:p.Glu262Asp
XM_011535751.1:c.786A>C	XP_011534053.1:p.Glu262Asp