Canonical Allele Identifier: CA14698537
Gene: ABHD8 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.17309480G>T
GRCh37 chr19:g.17420289G>T
gnomAD v2:
19:17420289 G / T
gnomAD v3:
19:17309480 G / T
gnomAD v4:
chr19-17309480-G-T
Joint Max Group AF 0.94005273 (AFR)
Genomes Max Group AF 0.93931185 (AFR)
Exomes Max Group AF 0.93083202 (AFR)
dbSNP:
2303745
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17309480G>T , CM000681.2:g.17309480G>T GRCh38
NC_000019.9:g.17420289G>T , CM000681.1:g.17420289G>T GRCh37
NC_000019.8:g.17281289G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000593489.1:c.40+687C>A ENSP00000468883.1:n.40+687C>A
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