Canonical Allele Identifier: CA450914833

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320257A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610534A>T , CM000668.2:g.73610534A>T	GRCh38
NC_000006.11:g.74320257A>T , CM000668.1:g.74320257A>T	GRCh37
NC_000006.10:g.74376978A>T	NCBI36
NG_008272.1:g.48481T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1125T>A MANE Select	ENSP00000348019.5:p.Pro375=
ENST00000355773.5:c.1125T>A	ENSP00000348019.5:p.Pro375=
NM_012434.4:c.1125T>A	NP_036566.1:p.Pro375=
XM_005248710.2:c.1074T>A	XP_005248767.1:p.Pro358=
XM_005248711.1:c.927T>A	XP_005248768.1:p.Pro309=
XM_011535750.1:c.1111+4781T>A	XP_011534052.1:n.1111+4781T>A
NM_012434.5:c.1125T>A MANE Select	NP_036566.1:p.Pro375=
NM_001382629.1:c.894T>A	NP_001369558.1:p.Pro298=
NM_001382630.1:c.1125T>A	NP_001369559.1:p.Pro375=
NM_001382631.1:c.1146T>A	NP_001369560.1:p.Pro382=
NM_001382632.1:c.1038T>A	NP_001369561.1:p.Pro346=
NM_001382633.1:c.1125T>A	NP_001369562.1:p.Pro375=
NM_001382634.1:c.966T>A	NP_001369563.1:p.Pro322=
NM_001382635.1:c.1122T>A	NP_001369564.1:p.Pro374=
NM_001382636.1:c.807T>A	NP_001369565.1:p.Pro269=