Canonical Allele Identifier: CA450912681

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310134A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1290T>C MANE Select	ENSP00000348019.5:p.Asn430=
ENST00000355773.5:c.1290T>C	ENSP00000348019.5:p.Asn430=
NM_012434.4:c.1290T>C	NP_036566.1:p.Asn430=
XM_005248710.2:c.1239T>C	XP_005248767.1:p.Asn413=
XM_005248711.1:c.1092T>C	XP_005248768.1:p.Asn364=
XM_011535750.1:c.1142T>C	XP_011534052.1:p.Ile381Thr
NM_012434.5:c.1290T>C MANE Select	NP_036566.1:p.Asn430=
NM_001382629.1:c.1059T>C	NP_001369558.1:p.Asn353=
NM_001382630.1:c.1260-5197T>C	NP_001369559.1:n.1260-5197T>C
NM_001382631.1:c.1311T>C	NP_001369560.1:p.Asn437=
NM_001382632.1:c.1203T>C	NP_001369561.1:p.Asn401=
NM_001382633.1:c.1290T>C	NP_001369562.1:p.Asn430=
NM_001382634.1:c.1131T>C	NP_001369563.1:p.Asn377=
NM_001382635.1:c.1287T>C	NP_001369564.1:p.Asn429=
NM_001382636.1:c.972T>C	NP_001369565.1:p.Asn324=