Canonical Allele Identifier: CA364720015

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310120A>T (hg19) ; chr6:g.73600397A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600397A>T , CM000668.2:g.73600397A>T	GRCh38
NC_000006.11:g.74310120A>T , CM000668.1:g.74310120A>T	GRCh37
NC_000006.10:g.74366841A>T	NCBI36
NG_008272.1:g.58618T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1304T>A MANE Select	ENSP00000348019.5:p.Ile435Asn
ENST00000355773.5:c.1304T>A	ENSP00000348019.5:p.Ile435Asn
NM_012434.4:c.1304T>A	NP_036566.1:p.Ile435Asn
XM_005248710.2:c.1253T>A	XP_005248767.1:p.Ile418Asn
XM_005248711.1:c.1106T>A	XP_005248768.1:p.Ile369Asn
XM_011535750.1:c.1156T>A	XP_011534052.1:p.Phe386Ile
NM_012434.5:c.1304T>A MANE Select	NP_036566.1:p.Ile435Asn
NM_001382629.1:c.1073T>A	NP_001369558.1:p.Ile358Asn
NM_001382630.1:c.1260-5183T>A	NP_001369559.1:n.1260-5183T>A
NM_001382631.1:c.1325T>A	NP_001369560.1:p.Ile442Asn
NM_001382632.1:c.1217T>A	NP_001369561.1:p.Ile406Asn
NM_001382633.1:c.1304T>A	NP_001369562.1:p.Ile435Asn
NM_001382634.1:c.1145T>A	NP_001369563.1:p.Ile382Asn
NM_001382635.1:c.1301T>A	NP_001369564.1:p.Ile434Asn
NM_001382636.1:c.986T>A	NP_001369565.1:p.Ile329Asn