Canonical Allele Identifier: CA364720049

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310135T>G (hg19) ; chr6:g.73600412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600412T>G , CM000668.2:g.73600412T>G	GRCh38
NC_000006.11:g.74310135T>G , CM000668.1:g.74310135T>G	GRCh37
NC_000006.10:g.74366856T>G	NCBI36
NG_008272.1:g.58603A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1289A>C MANE Select	ENSP00000348019.5:p.Asn430Thr
ENST00000355773.5:c.1289A>C	ENSP00000348019.5:p.Asn430Thr
NM_012434.4:c.1289A>C	NP_036566.1:p.Asn430Thr
XM_005248710.2:c.1238A>C	XP_005248767.1:p.Asn413Thr
XM_005248711.1:c.1091A>C	XP_005248768.1:p.Asn364Thr
XM_011535750.1:c.1141A>C	XP_011534052.1:p.Ile381Leu
NM_012434.5:c.1289A>C MANE Select	NP_036566.1:p.Asn430Thr
NM_001382629.1:c.1058A>C	NP_001369558.1:p.Asn353Thr
NM_001382630.1:c.1260-5198A>C	NP_001369559.1:n.1260-5198A>C
NM_001382631.1:c.1310A>C	NP_001369560.1:p.Asn437Thr
NM_001382632.1:c.1202A>C	NP_001369561.1:p.Asn401Thr
NM_001382633.1:c.1289A>C	NP_001369562.1:p.Asn430Thr
NM_001382634.1:c.1130A>C	NP_001369563.1:p.Asn377Thr
NM_001382635.1:c.1286A>C	NP_001369564.1:p.Asn429Thr
NM_001382636.1:c.971A>C	NP_001369565.1:p.Asn324Thr