Canonical Allele Identifier: CA140973803

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638452G>C , CM000668.2:g.73638452G>C	GRCh38
NC_000006.11:g.74348175G>C , CM000668.1:g.74348175G>C	GRCh37
NC_000006.10:g.74404896G>C	NCBI36
NG_008272.1:g.20563C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.573C>G MANE Select	NP_036566.1:p.Pro191=
ENST00000355773.6:c.573C>G MANE Select	ENSP00000348019.5:p.Pro191=
NM_001382629.1:c.342C>G	NP_001369558.1:p.Pro114=
NM_001382630.1:c.573C>G	NP_001369559.1:p.Pro191=
NM_001382631.1:c.594C>G	NP_001369560.1:p.Pro198=
NM_001382632.1:c.573C>G	NP_001369561.1:p.Pro191=
NM_001382633.1:c.573C>G	NP_001369562.1:p.Pro191=
NM_001382634.1:c.573C>G	NP_001369563.1:p.Pro191=
NM_001382635.1:c.573C>G	NP_001369564.1:p.Pro191=
NM_001382636.1:c.342C>G	NP_001369565.1:p.Pro114=
NM_012434.4:c.573C>G	NP_036566.1:p.Pro191=
ENST00000355773.5:c.573C>G	ENSP00000348019.5:p.Pro191=
ENST00000481996.1:n.339C>G
XM_005248710.2:c.522C>G	XP_005248767.1:p.Pro174=
XM_005248711.1:c.375C>G	XP_005248768.1:p.Pro125=
XM_011535750.1:c.573C>G	XP_011534052.1:p.Pro191=
XM_011535751.1:c.573C>G	XP_011534053.1:p.Pro191=