Canonical Allele Identifier: CA364718108

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74351517A>C (hg19) ; chr6:g.73641794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641794A>C , CM000668.2:g.73641794A>C	GRCh38
NC_000006.11:g.74351517A>C , CM000668.1:g.74351517A>C	GRCh37
NC_000006.10:g.74408238A>C	NCBI36
NG_008272.1:g.17221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.422T>G MANE Select	ENSP00000348019.5:p.Phe141Cys
ENST00000355773.5:c.422T>G	ENSP00000348019.5:p.Phe141Cys
ENST00000481996.1:n.188T>G
NM_012434.4:c.422T>G	NP_036566.1:p.Phe141Cys
XM_005248710.2:c.371T>G	XP_005248767.1:p.Phe124Cys
XM_005248711.1:c.224T>G	XP_005248768.1:p.Phe75Cys
XM_011535750.1:c.422T>G	XP_011534052.1:p.Phe141Cys
XM_011535751.1:c.422T>G	XP_011534053.1:p.Phe141Cys
NM_012434.5:c.422T>G MANE Select	NP_036566.1:p.Phe141Cys
NM_001382629.1:c.191T>G	NP_001369558.1:p.Phe64Cys
NM_001382630.1:c.422T>G	NP_001369559.1:p.Phe141Cys
NM_001382631.1:c.443T>G	NP_001369560.1:p.Phe148Cys
NM_001382632.1:c.422T>G	NP_001369561.1:p.Phe141Cys
NM_001382633.1:c.422T>G	NP_001369562.1:p.Phe141Cys
NM_001382634.1:c.422T>G	NP_001369563.1:p.Phe141Cys
NM_001382635.1:c.422T>G	NP_001369564.1:p.Phe141Cys
NM_001382636.1:c.191T>G	NP_001369565.1:p.Phe64Cys