Canonical Allele Identifier: CA364721195

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320265T>A (hg19) ; chr6:g.73610542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610542T>A , CM000668.2:g.73610542T>A	GRCh38
NC_000006.11:g.74320265T>A , CM000668.1:g.74320265T>A	GRCh37
NC_000006.10:g.74376986T>A	NCBI36
NG_008272.1:g.48473A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1117A>T MANE Select	ENSP00000348019.5:p.Ile373Phe
ENST00000355773.5:c.1117A>T	ENSP00000348019.5:p.Ile373Phe
NM_012434.4:c.1117A>T	NP_036566.1:p.Ile373Phe
XM_005248710.2:c.1066A>T	XP_005248767.1:p.Ile356Phe
XM_005248711.1:c.919A>T	XP_005248768.1:p.Ile307Phe
XM_011535750.1:c.1111+4773A>T	XP_011534052.1:n.1111+4773A>T
NM_012434.5:c.1117A>T MANE Select	NP_036566.1:p.Ile373Phe
NM_001382629.1:c.886A>T	NP_001369558.1:p.Ile296Phe
NM_001382630.1:c.1117A>T	NP_001369559.1:p.Ile373Phe
NM_001382631.1:c.1138A>T	NP_001369560.1:p.Ile380Phe
NM_001382632.1:c.1030A>T	NP_001369561.1:p.Ile344Phe
NM_001382633.1:c.1117A>T	NP_001369562.1:p.Ile373Phe
NM_001382634.1:c.958A>T	NP_001369563.1:p.Ile320Phe
NM_001382635.1:c.1114A>T	NP_001369564.1:p.Ile372Phe
NM_001382636.1:c.799A>T	NP_001369565.1:p.Ile267Phe