Canonical Allele Identifier: CA364720987

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74320167A>T (hg19) ; chr6:g.73610444A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73610444A>T , CM000668.2:g.73610444A>T	GRCh38
NC_000006.11:g.74320167A>T , CM000668.1:g.74320167A>T	GRCh37
NC_000006.10:g.74376888A>T	NCBI36
NG_008272.1:g.48571T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.1215T>A MANE Select	ENSP00000348019.5:p.Phe405Leu
ENST00000355773.5:c.1215T>A	ENSP00000348019.5:p.Phe405Leu
NM_012434.4:c.1215T>A	NP_036566.1:p.Phe405Leu
XM_005248710.2:c.1164T>A	XP_005248767.1:p.Phe388Leu
XM_005248711.1:c.1017T>A	XP_005248768.1:p.Phe339Leu
XM_011535750.1:c.1111+4871T>A	XP_011534052.1:n.1111+4871T>A
NM_012434.5:c.1215T>A MANE Select	NP_036566.1:p.Phe405Leu
NM_001382629.1:c.984T>A	NP_001369558.1:p.Phe328Leu
NM_001382630.1:c.1215T>A	NP_001369559.1:p.Phe405Leu
NM_001382631.1:c.1236T>A	NP_001369560.1:p.Phe412Leu
NM_001382632.1:c.1128T>A	NP_001369561.1:p.Phe376Leu
NM_001382633.1:c.1215T>A	NP_001369562.1:p.Phe405Leu
NM_001382634.1:c.1056T>A	NP_001369563.1:p.Phe352Leu
NM_001382635.1:c.1212T>A	NP_001369564.1:p.Phe404Leu
NM_001382636.1:c.897T>A	NP_001369565.1:p.Phe299Leu