Canonical Allele Identifier: CA3890554

Gene: SLC17A5

Linked Data

• dbSNP Id: rs766875158
• ExAC: 6:74351611 A / G
• gnomAD v2: 6-74351611-A-G
• gnomAD v4: 6-73641888-A-G
• MyVariant Identifiers: chr6:g.74351611A>G (hg19) ; chr6:g.73641888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73641888A>G , CM000668.2:g.73641888A>G	GRCh38
NC_000006.11:g.74351611A>G , CM000668.1:g.74351611A>G	GRCh37
NC_000006.10:g.74408332A>G	NCBI36
NG_008272.1:g.17127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.328T>C MANE Select	ENSP00000348019.5:p.Trp110Arg
ENST00000355773.5:c.328T>C	ENSP00000348019.5:p.Trp110Arg
ENST00000481996.1:n.94T>C
NM_012434.4:c.328T>C	NP_036566.1:p.Trp110Arg
XM_005248710.2:c.277T>C	XP_005248767.1:p.Trp93Arg
XM_005248711.1:c.130T>C	XP_005248768.1:p.Trp44Arg
XM_011535750.1:c.328T>C	XP_011534052.1:p.Trp110Arg
XM_011535751.1:c.328T>C	XP_011534053.1:p.Trp110Arg
NM_012434.5:c.328T>C MANE Select	NP_036566.1:p.Trp110Arg
NM_001382629.1:c.97T>C	NP_001369558.1:p.Trp33Arg
NM_001382630.1:c.328T>C	NP_001369559.1:p.Trp110Arg
NM_001382631.1:c.349T>C	NP_001369560.1:p.Trp117Arg
NM_001382632.1:c.328T>C	NP_001369561.1:p.Trp110Arg
NM_001382633.1:c.328T>C	NP_001369562.1:p.Trp110Arg
NM_001382634.1:c.328T>C	NP_001369563.1:p.Trp110Arg
NM_001382635.1:c.328T>C	NP_001369564.1:p.Trp110Arg
NM_001382636.1:c.97T>C	NP_001369565.1:p.Trp33Arg