Canonical Allele Identifier: CA364716687

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73636708C>T , CM000668.2:g.73636708C>T	GRCh38
NC_000006.11:g.74346431C>T , CM000668.1:g.74346431C>T	GRCh37
NC_000006.10:g.74403152C>T	NCBI36
NG_008272.1:g.22307G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.614-1G>A MANE Select	NP_036566.1:n.614-1G>A
ENST00000355773.6:c.614-1G>A MANE Select	ENSP00000348019.5:n.614-1G>A
NM_001382629.1:c.383-1G>A	NP_001369558.1:n.383-1G>A
NM_001382630.1:c.614-1G>A	NP_001369559.1:n.614-1G>A
NM_001382631.1:c.635-1G>A	NP_001369560.1:n.635-1G>A
NM_001382632.1:c.614-1208G>A	NP_001369561.1:n.614-1208G>A
NM_001382633.1:c.614-1G>A	NP_001369562.1:n.614-1G>A
NM_001382634.1:c.614-1G>A	NP_001369563.1:n.614-1G>A
NM_001382635.1:c.614-4G>A	NP_001369564.1:n.614-4G>A
NM_001382636.1:c.383-1208G>A	NP_001369565.1:n.383-1208G>A
NM_012434.4:c.614-1G>A	NP_036566.1:n.614-1G>A
ENST00000355773.5:c.614-1G>A	ENSP00000348019.5:n.614-1G>A
ENST00000481996.1:n.380-1G>A
XM_005248710.2:c.563-1G>A	XP_005248767.1:n.563-1G>A
XM_005248711.1:c.416-1G>A	XP_005248768.1:n.416-1G>A
XM_011535750.1:c.614-1G>A	XP_011534052.1:n.614-1G>A
XM_011535751.1:c.614-1G>A	XP_011534053.1:n.614-1G>A