Canonical Allele Identifier: CA364718933

Gene: SLC17A5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73644477A>C , CM000668.2:g.73644477A>C	GRCh38
NC_000006.11:g.74354200A>C , CM000668.1:g.74354200A>C	GRCh37
NC_000006.10:g.74410921A>C	NCBI36
NG_008272.1:g.14538T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012434.5:c.221T>G MANE Select	NP_036566.1:p.Leu74Ter
ENST00000355773.6:c.221T>G MANE Select	ENSP00000348019.5:p.Leu74Ter
NM_001382629.1:c.61-2553T>G	NP_001369558.1:n.61-2553T>G
NM_001382630.1:c.221T>G	NP_001369559.1:p.Leu74Ter
NM_001382631.1:c.242T>G	NP_001369560.1:p.Leu81Ter
NM_001382632.1:c.221T>G	NP_001369561.1:p.Leu74Ter
NM_001382633.1:c.221T>G	NP_001369562.1:p.Leu74Ter
NM_001382634.1:c.221T>G	NP_001369563.1:p.Leu74Ter
NM_001382635.1:c.221T>G	NP_001369564.1:p.Leu74Ter
NM_001382636.1:c.61-2553T>G	NP_001369565.1:n.61-2553T>G
NM_012434.4:c.221T>G	NP_036566.1:p.Leu74Ter
ENST00000355773.5:c.221T>G	ENSP00000348019.5:p.Leu74Ter
XM_005248710.2:c.170T>G	XP_005248767.1:p.Leu57Ter
XM_005248711.1:c.23T>G	XP_005248768.1:p.Leu8Ter
XM_011535750.1:c.221T>G	XP_011534052.1:p.Leu74Ter
XM_011535751.1:c.221T>G	XP_011534053.1:p.Leu74Ter