Canonical Allele Identifier: CA16041087
Gene: SLC17A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.73641926T>G , CM000668.2:g.73641926T>G GRCh38
NC_000006.11:g.74351649T>G , CM000668.1:g.74351649T>G GRCh37
NC_000006.10:g.74408370T>G NCBI36
NG_008272.1:g.17089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355773.6:c.292-2A>C MANE Select ENSP00000348019.5:n.292-2A>C
ENST00000355773.5:c.292-2A>C ENSP00000348019.5:n.292-2A>C
ENST00000481996.1:n.58-2A>C
NM_012434.4:c.292-2A>C NP_036566.1:n.292-2A>C
XM_005248710.2:c.241-2A>C XP_005248767.1:n.241-2A>C
XM_005248711.1:c.94-2A>C XP_005248768.1:n.94-2A>C
XM_011535750.1:c.292-2A>C XP_011534052.1:n.292-2A>C
XM_011535751.1:c.292-2A>C XP_011534053.1:n.292-2A>C
NM_012434.5:c.292-2A>C MANE Select NP_036566.1:n.292-2A>C
NM_001382629.1:c.61-2A>C NP_001369558.1:n.61-2A>C
NM_001382630.1:c.292-2A>C NP_001369559.1:n.292-2A>C
NM_001382631.1:c.313-2A>C NP_001369560.1:n.313-2A>C
NM_001382632.1:c.292-2A>C NP_001369561.1:n.292-2A>C
NM_001382633.1:c.292-2A>C NP_001369562.1:n.292-2A>C
NM_001382634.1:c.292-2A>C NP_001369563.1:n.292-2A>C
NM_001382635.1:c.292-2A>C NP_001369564.1:n.292-2A>C
NM_001382636.1:c.61-2A>C NP_001369565.1:n.61-2A>C
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