Canonical Allele Identifier: CA364713652

Gene: SLC17A5

Linked Data

• dbSNP Id: rs2150099369
• MyVariant Identifiers: chr6:g.74331634G>A (hg19) ; chr6:g.73621911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621911G>A , CM000668.2:g.73621911G>A	GRCh38
NC_000006.11:g.74331634G>A , CM000668.1:g.74331634G>A	GRCh37
NC_000006.10:g.74388355G>A	NCBI36
NG_008272.1:g.37104C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.871C>T MANE Select	ENSP00000348019.5:p.Leu291Phe
ENST00000355773.5:c.871C>T	ENSP00000348019.5:p.Leu291Phe
NM_012434.4:c.871C>T	NP_036566.1:p.Leu291Phe
XM_005248710.2:c.820C>T	XP_005248767.1:p.Leu274Phe
XM_005248711.1:c.673C>T	XP_005248768.1:p.Leu225Phe
XM_011535750.1:c.871C>T	XP_011534052.1:p.Leu291Phe
NM_012434.5:c.871C>T MANE Select	NP_036566.1:p.Leu291Phe
NM_001382629.1:c.640C>T	NP_001369558.1:p.Leu214Phe
NM_001382630.1:c.871C>T	NP_001369559.1:p.Leu291Phe
NM_001382631.1:c.892C>T	NP_001369560.1:p.Leu298Phe
NM_001382632.1:c.784C>T	NP_001369561.1:p.Leu262Phe
NM_001382633.1:c.871C>T	NP_001369562.1:p.Leu291Phe
NM_001382634.1:c.820-6464C>T	NP_001369563.1:n.820-6464C>T
NM_001382635.1:c.868C>T	NP_001369564.1:p.Leu290Phe
NM_001382636.1:c.553C>T	NP_001369565.1:p.Leu185Phe