Canonical Allele Identifier: CA364720119

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73653792C>T , CM000668.2:g.73653792C>T	GRCh38
NC_000006.11:g.74363515C>T , CM000668.1:g.74363515C>T	GRCh37
NC_000006.10:g.74420236C>T	NCBI36
NG_008272.1:g.5223G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.94+1G>A MANE Select	NP_036566.1:n.94+1G>A
ENST00000355773.6:c.94+1G>A MANE Select	ENSP00000348019.5:n.94+1G>A
NM_001382629.1:c.60+1G>A	NP_001369558.1:n.60+1G>A
NM_001382630.1:c.94+1G>A	NP_001369559.1:n.94+1G>A
NM_001382631.1:c.94+1G>A	NP_001369560.1:n.94+1G>A
NM_001382632.1:c.94+1G>A	NP_001369561.1:n.94+1G>A
NM_001382633.1:c.94+1G>A	NP_001369562.1:n.94+1G>A
NM_001382634.1:c.94+1G>A	NP_001369563.1:n.94+1G>A
NM_001382635.1:c.94+1G>A	NP_001369564.1:n.94+1G>A
NM_001382636.1:c.60+1G>A	NP_001369565.1:n.60+1G>A
NM_012434.4:c.94+1G>A	NP_036566.1:n.94+1G>A
ENST00000355773.5:c.94+1G>A	ENSP00000348019.5:n.94+1G>A
XM_011535750.1:c.94+1G>A	XP_011534052.1:n.94+1G>A
XM_011535751.1:c.94+1G>A	XP_011534053.1:n.94+1G>A