Canonical Allele Identifier: CA364720045

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310134A>C (hg19) ; chr6:g.73600411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600411A>C , CM000668.2:g.73600411A>C	GRCh38
NC_000006.11:g.74310134A>C , CM000668.1:g.74310134A>C	GRCh37
NC_000006.10:g.74366855A>C	NCBI36
NG_008272.1:g.58604T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1290T>G MANE Select	ENSP00000348019.5:p.Asn430Lys
ENST00000355773.5:c.1290T>G	ENSP00000348019.5:p.Asn430Lys
NM_012434.4:c.1290T>G	NP_036566.1:p.Asn430Lys
XM_005248710.2:c.1239T>G	XP_005248767.1:p.Asn413Lys
XM_005248711.1:c.1092T>G	XP_005248768.1:p.Asn364Lys
XM_011535750.1:c.1142T>G	XP_011534052.1:p.Ile381Arg
NM_012434.5:c.1290T>G MANE Select	NP_036566.1:p.Asn430Lys
NM_001382629.1:c.1059T>G	NP_001369558.1:p.Asn353Lys
NM_001382630.1:c.1260-5197T>G	NP_001369559.1:n.1260-5197T>G
NM_001382631.1:c.1311T>G	NP_001369560.1:p.Asn437Lys
NM_001382632.1:c.1203T>G	NP_001369561.1:p.Asn401Lys
NM_001382633.1:c.1290T>G	NP_001369562.1:p.Asn430Lys
NM_001382634.1:c.1131T>G	NP_001369563.1:p.Asn377Lys
NM_001382635.1:c.1287T>G	NP_001369564.1:p.Asn429Lys
NM_001382636.1:c.972T>G	NP_001369565.1:p.Asn324Lys