Canonical Allele Identifier: CA364720010

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74310117G>T (hg19) ; chr6:g.73600394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600394G>T , CM000668.2:g.73600394G>T	GRCh38
NC_000006.11:g.74310117G>T , CM000668.1:g.74310117G>T	GRCh37
NC_000006.10:g.74366838G>T	NCBI36
NG_008272.1:g.58621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1307C>A MANE Select	ENSP00000348019.5:p.Pro436Gln
ENST00000355773.5:c.1307C>A	ENSP00000348019.5:p.Pro436Gln
NM_012434.4:c.1307C>A	NP_036566.1:p.Pro436Gln
XM_005248710.2:c.1256C>A	XP_005248767.1:p.Pro419Gln
XM_005248711.1:c.1109C>A	XP_005248768.1:p.Pro370Gln
XM_011535750.1:c.1159C>A	XP_011534052.1:p.Gln387Lys
NM_012434.5:c.1307C>A MANE Select	NP_036566.1:p.Pro436Gln
NM_001382629.1:c.1076C>A	NP_001369558.1:p.Pro359Gln
NM_001382630.1:c.1260-5180C>A	NP_001369559.1:n.1260-5180C>A
NM_001382631.1:c.1328C>A	NP_001369560.1:p.Pro443Gln
NM_001382632.1:c.1220C>A	NP_001369561.1:p.Pro407Gln
NM_001382633.1:c.1307C>A	NP_001369562.1:p.Pro436Gln
NM_001382634.1:c.1148C>A	NP_001369563.1:p.Pro383Gln
NM_001382635.1:c.1304C>A	NP_001369564.1:p.Pro435Gln
NM_001382636.1:c.989C>A	NP_001369565.1:p.Pro330Gln