Canonical Allele Identifier: CA364718118

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74351523A>C (hg19) ; chr6:g.73641800A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641800A>C , CM000668.2:g.73641800A>C	GRCh38
NC_000006.11:g.74351523A>C , CM000668.1:g.74351523A>C	GRCh37
NC_000006.10:g.74408244A>C	NCBI36
NG_008272.1:g.17215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.416T>G MANE Select	ENSP00000348019.5:p.Leu139Arg
ENST00000355773.5:c.416T>G	ENSP00000348019.5:p.Leu139Arg
ENST00000481996.1:n.182T>G
NM_012434.4:c.416T>G	NP_036566.1:p.Leu139Arg
XM_005248710.2:c.365T>G	XP_005248767.1:p.Leu122Arg
XM_005248711.1:c.218T>G	XP_005248768.1:p.Leu73Arg
XM_011535750.1:c.416T>G	XP_011534052.1:p.Leu139Arg
XM_011535751.1:c.416T>G	XP_011534053.1:p.Leu139Arg
NM_012434.5:c.416T>G MANE Select	NP_036566.1:p.Leu139Arg
NM_001382629.1:c.185T>G	NP_001369558.1:p.Leu62Arg
NM_001382630.1:c.416T>G	NP_001369559.1:p.Leu139Arg
NM_001382631.1:c.437T>G	NP_001369560.1:p.Leu146Arg
NM_001382632.1:c.416T>G	NP_001369561.1:p.Leu139Arg
NM_001382633.1:c.416T>G	NP_001369562.1:p.Leu139Arg
NM_001382634.1:c.416T>G	NP_001369563.1:p.Leu139Arg
NM_001382635.1:c.416T>G	NP_001369564.1:p.Leu139Arg
NM_001382636.1:c.185T>G	NP_001369565.1:p.Leu62Arg