Canonical Allele Identifier: CA364720953

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320159G>T (hg19) ; chr6:g.73610436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610436G>T , CM000668.2:g.73610436G>T	GRCh38
NC_000006.11:g.74320159G>T , CM000668.1:g.74320159G>T	GRCh37
NC_000006.10:g.74376880G>T	NCBI36
NG_008272.1:g.48579C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1223C>A MANE Select	ENSP00000348019.5:p.Ser408Tyr
ENST00000355773.5:c.1223C>A	ENSP00000348019.5:p.Ser408Tyr
NM_012434.4:c.1223C>A	NP_036566.1:p.Ser408Tyr
XM_005248710.2:c.1172C>A	XP_005248767.1:p.Ser391Tyr
XM_005248711.1:c.1025C>A	XP_005248768.1:p.Ser342Tyr
XM_011535750.1:c.1111+4879C>A	XP_011534052.1:n.1111+4879C>A
NM_012434.5:c.1223C>A MANE Select	NP_036566.1:p.Ser408Tyr
NM_001382629.1:c.992C>A	NP_001369558.1:p.Ser331Tyr
NM_001382630.1:c.1223C>A	NP_001369559.1:p.Ser408Tyr
NM_001382631.1:c.1244C>A	NP_001369560.1:p.Ser415Tyr
NM_001382632.1:c.1136C>A	NP_001369561.1:p.Ser379Tyr
NM_001382633.1:c.1223C>A	NP_001369562.1:p.Ser408Tyr
NM_001382634.1:c.1064C>A	NP_001369563.1:p.Ser355Tyr
NM_001382635.1:c.1220C>A	NP_001369564.1:p.Ser407Tyr
NM_001382636.1:c.905C>A	NP_001369565.1:p.Ser302Tyr