Canonical Allele Identifier: CA364712303

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73615387G>A , CM000668.2:g.73615387G>A	GRCh38
NC_000006.11:g.74325110G>A , CM000668.1:g.74325110G>A	GRCh37
NC_000006.10:g.74381831G>A	NCBI36
NG_008272.1:g.43628C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.1039C>T MANE Select	NP_036566.1:p.Gln347Ter
ENST00000355773.6:c.1039C>T MANE Select	ENSP00000348019.5:p.Gln347Ter
NM_001382629.1:c.808C>T	NP_001369558.1:p.Gln270Ter
NM_001382630.1:c.1039C>T	NP_001369559.1:p.Gln347Ter
NM_001382631.1:c.1060C>T	NP_001369560.1:p.Gln354Ter
NM_001382632.1:c.952C>T	NP_001369561.1:p.Gln318Ter
NM_001382633.1:c.1039C>T	NP_001369562.1:p.Gln347Ter
NM_001382634.1:c.880C>T	NP_001369563.1:p.Gln294Ter
NM_001382635.1:c.1036C>T	NP_001369564.1:p.Gln346Ter
NM_001382636.1:c.721C>T	NP_001369565.1:p.Gln241Ter
NM_012434.4:c.1039C>T	NP_036566.1:p.Gln347Ter
ENST00000355773.5:c.1039C>T	ENSP00000348019.5:p.Gln347Ter
XM_005248710.2:c.988C>T	XP_005248767.1:p.Gln330Ter
XM_005248711.1:c.841C>T	XP_005248768.1:p.Gln281Ter
XM_011535750.1:c.1039C>T	XP_011534052.1:p.Gln347Ter