Canonical Allele Identifier: CA15943070
Gene: SLC17A7 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49429505G>T
GRCh37 chr19:g.49932762G>T
gnomAD v2:
19:49932762 G / T
gnomAD v3:
19:49429505 G / T
gnomAD v4:
chr19-49429505-G-T
Joint Max Group AF 0.85849307 (AFR)
Genomes Max Group AF 0.85841633 (AFR)
Exomes Max Group AF 0.84458601 (AFR)
dbSNP:
1043558
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49429505G>T , CM000681.2:g.49429505G>T GRCh38
NC_000019.9:g.49932762G>T , CM000681.1:g.49932762G>T GRCh37
NC_000019.8:g.54624574G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221485.8:c.*1014C>A MANE Select ENSP00000221485.2:n.*1014C>A
ENST00000221485.7:c.*1014C>A ENSP00000221485.2:n.*1014C>A
NM_020309.3:c.*1014C>A NP_064705.1:n.*1014C>A
NM_020309.4:c.*1014C>A MANE Select NP_064705.1:n.*1014C>A
Search 100 bp 5'
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