Canonical Allele Identifier: CA3890255
Gene: SLC17A5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.73595133C>T
GRCh37 chr6:g.74304856C>T
Revel Score:
ENST00000355773 (MANE Select) 0.256
gnomAD v2:
6:74304856 C / T
gnomAD v3:
6:73595133 C / T
gnomAD v4:
chr6-73595133-C-T
Joint Max Group AF 0.00033375 (AFR)
Genomes Max Group AF 0.0002804 (AFR)
Exomes Max Group AF 0.00029944 (AFR)
ClinVar Allele:
308726
ClinVar RCV:
RCV000332192
RCV001095269
RCV004544679
ClinVar Variation:
357920
dbSNP:
141341430
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73595133C>T , CM000668.2:g.73595133C>T GRCh38
NC_000006.11:g.74304856C>T , CM000668.1:g.74304856C>T GRCh37
NC_000006.10:g.74361577C>T NCBI36
NG_008272.1:g.63882G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.1432G>A MANE Select ENSP00000348019.5:p.Ala478Thr
ENST00000355773.5:c.1432G>A ENSP00000348019.5:p.Ala478Thr
NM_012434.4:c.1432G>A NP_036566.1:p.Ala478Thr
XM_005248710.2:c.1381G>A XP_005248767.1:p.Ala461Thr
XM_005248711.1:c.1234G>A XP_005248768.1:p.Ala412Thr
XM_011535750.1:c.*90G>A XP_011534052.1:n.*90G>A
NM_012434.5:c.1432G>A MANE Select NP_036566.1:p.Ala478Thr
NM_001382629.1:c.1201G>A NP_001369558.1:p.Ala401Thr
NM_001382630.1:c.1341G>A NP_001369559.1:p.Ser447=
NM_001382631.1:c.1453G>A NP_001369560.1:p.Ala485Thr
NM_001382632.1:c.1345G>A NP_001369561.1:p.Ala449Thr
NM_001382633.1:c.1530G>A NP_001369562.1:p.Ser510=
NM_001382634.1:c.1273G>A NP_001369563.1:p.Ala425Thr
NM_001382635.1:c.1429G>A NP_001369564.1:p.Ala477Thr
NM_001382636.1:c.1114G>A NP_001369565.1:p.Ala372Thr
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