Canonical Allele Identifier: CA364713634

Gene: SLC17A5

Linked Data

• MyVariant Identifiers: chr6:g.74331629C>G (hg19) ; chr6:g.73621906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73621906C>G , CM000668.2:g.73621906C>G	GRCh38
NC_000006.11:g.74331629C>G , CM000668.1:g.74331629C>G	GRCh37
NC_000006.10:g.74388350C>G	NCBI36
NG_008272.1:g.37109G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355773.6:c.876G>C MANE Select	ENSP00000348019.5:p.Trp292Cys
ENST00000355773.5:c.876G>C	ENSP00000348019.5:p.Trp292Cys
NM_012434.4:c.876G>C	NP_036566.1:p.Trp292Cys
XM_005248710.2:c.825G>C	XP_005248767.1:p.Trp275Cys
XM_005248711.1:c.678G>C	XP_005248768.1:p.Trp226Cys
XM_011535750.1:c.876G>C	XP_011534052.1:p.Trp292Cys
NM_012434.5:c.876G>C MANE Select	NP_036566.1:p.Trp292Cys
NM_001382629.1:c.645G>C	NP_001369558.1:p.Trp215Cys
NM_001382630.1:c.876G>C	NP_001369559.1:p.Trp292Cys
NM_001382631.1:c.897G>C	NP_001369560.1:p.Trp299Cys
NM_001382632.1:c.789G>C	NP_001369561.1:p.Trp263Cys
NM_001382633.1:c.876G>C	NP_001369562.1:p.Trp292Cys
NM_001382634.1:c.820-6459G>C	NP_001369563.1:n.820-6459G>C
NM_001382635.1:c.873G>C	NP_001369564.1:p.Trp291Cys
NM_001382636.1:c.558G>C	NP_001369565.1:p.Trp186Cys