Canonical Allele Identifier: CA3890502

Gene: SLC17A5

Linked Data

• dbSNP Id: rs775745551
• ExAC: 6:74348190 C / T
• gnomAD v2: 6-74348190-C-T
• gnomAD v3: 6-73638467-C-T
• gnomAD v4: 6-73638467-C-T
• MyVariant Identifiers: chr6:g.74348190C>T (hg19) ; chr6:g.73638467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73638467C>T , CM000668.2:g.73638467C>T	GRCh38
NC_000006.11:g.74348190C>T , CM000668.1:g.74348190C>T	GRCh37
NC_000006.10:g.74404911C>T	NCBI36
NG_008272.1:g.20548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.558G>A MANE Select	ENSP00000348019.5:p.Trp186Ter
ENST00000355773.5:c.558G>A	ENSP00000348019.5:p.Trp186Ter
ENST00000481996.1:n.324G>A
NM_012434.4:c.558G>A	NP_036566.1:p.Trp186Ter
XM_005248710.2:c.507G>A	XP_005248767.1:p.Trp169Ter
XM_005248711.1:c.360G>A	XP_005248768.1:p.Trp120Ter
XM_011535750.1:c.558G>A	XP_011534052.1:p.Trp186Ter
XM_011535751.1:c.558G>A	XP_011534053.1:p.Trp186Ter
NM_012434.5:c.558G>A MANE Select	NP_036566.1:p.Trp186Ter
NM_001382629.1:c.327G>A	NP_001369558.1:p.Trp109Ter
NM_001382630.1:c.558G>A	NP_001369559.1:p.Trp186Ter
NM_001382631.1:c.579G>A	NP_001369560.1:p.Trp193Ter
NM_001382632.1:c.558G>A	NP_001369561.1:p.Trp186Ter
NM_001382633.1:c.558G>A	NP_001369562.1:p.Trp186Ter
NM_001382634.1:c.558G>A	NP_001369563.1:p.Trp186Ter
NM_001382635.1:c.558G>A	NP_001369564.1:p.Trp186Ter
NM_001382636.1:c.327G>A	NP_001369565.1:p.Trp109Ter