Canonical Allele Identifier: CA14500948
Gene: DBIL5P HGNC NCBI
GEMIN4 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.752680G>A
GRCh37 chr17:g.655920G>A
gnomAD v2:
17:655920 G / A
gnomAD v3:
17:752680 G / A
gnomAD v4:
chr17-752680-G-A
Joint Max Group AF 0.26426892 (NFE)
Genomes Max Group AF 0.26734535 (NFE)
Exomes Max Group AF 0.26373723 (NFE)
dbSNP:
910924
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.752680G>A , CM000679.2:g.752680G>A GRCh38
NC_000017.10:g.655920G>A , CM000679.1:g.655920G>A GRCh37
NC_000017.9:g.602670G>A NCBI36
NG_046938.1:g.5193C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449830.5:n.14G>A (DBIL5P)
ENST00000536214.1:n.21G>A (DBIL5P)
ENST00000570364.5:c.-137C>T (GEMIN4) ENSP00000461103.1:n.-137C>T
ENST00000576383.1:c.-24+1279C>T (GEMIN4) ENSP00000461368.1:n.-24+1279C>T
NR_024120.2:n.348G>A (DBIL5P)
XM_005256670.3:c.-86C>T (GEMIN4) XP_005256727.1:n.-86C>T
XM_011523911.1:c.-137C>T (GEMIN4) XP_011522213.1:n.-137C>T
XM_005256670.5:c.-86C>T (GEMIN4) XP_005256727.1:n.-86C>T
XM_011523911.2:c.-137C>T (GEMIN4) XP_011522213.1:n.-137C>T
XM_017024709.1:c.-389C>T (GEMIN4) XP_016880198.1:n.-389C>T
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