Canonical Allele Identifier: CA682635062
Community Standard Title: NM_139319.3(SLC17A8):c.-72A>T
Gene: SLC17A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100357320A>T , CM000674.2:g.100357320A>T GRCh38
NC_000012.11:g.100751098A>T , CM000674.1:g.100751098A>T GRCh37
NC_000012.10:g.99275229A>T NCBI36
NG_021175.1:g.5242A>T

Transcript Alleles

HGVS Amino-acid Change
NM_139319.3:c.-72A>T MANE Select NP_647480.1:n.-72A>T
ENST00000323346.10:c.-72A>T MANE Select ENSP00000316909.4:n.-72A>T
NM_001145288.1:c.-72A>T NP_001138760.1:n.-72A>T
NM_001145288.2:c.-72A>T NP_001138760.1:n.-72A>T
NM_139319.2:c.-72A>T NP_647480.1:n.-72A>T
ENST00000323346.9:c.-72A>T ENSP00000316909.4:n.-72A>T
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