Canonical Allele Identifier: CA12853603
Gene: DCTN6 HGNC NCBI
LEPROTL1 HGNC NCBI
dbSNP:
10096097
gnomAD v2:
8:30027098 G / A
gnomAD v3:
8:30169582 G / A
gnomAD v4:
chr8-30169582-G-A
Joint Max Group AF 0.72642116 (NFE)
Genomes Max Group AF 0.72642116 (NFE)
MyVariant.info:
GRCh38 chr8:g.30169582G>A
GRCh37 chr8:g.30027098G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30169582G>A , CM000670.2:g.30169582G>A GRCh38
NC_000008.10:g.30027098G>A , CM000670.1:g.30027098G>A GRCh37
NC_000008.9:g.30146640G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221114.8:c.88+5407G>A (DCTN6) MANE Select ENSP00000221114.3:n.88+5407G>A
ENST00000221114.7:c.88+5407G>A (DCTN6) ENSP00000221114.3:n.88+5407G>A
ENST00000519830.1:c.*160+3681G>A (DCTN6) ENSP00000429408.1:n.*160+3681G>A
ENST00000520739.5:c.*23+5407G>A (LEPROTL1) ENSP00000429398.1:n.*23+5407G>A
ENST00000520829.5:c.88+5407G>A (DCTN6) ENSP00000431017.1:n.88+5407G>A
ENST00000522141.5:c.88+5407G>A (DCTN6) ENSP00000430109.1:n.88+5407G>A
ENST00000522540.5:n.103+5407G>A (DCTN6)
ENST00000523666.5:c.88+5407G>A (DCTN6) ENSP00000427955.1:n.88+5407G>A
NM_006571.3:c.88+5407G>A (DCTN6) NP_006562.1:n.88+5407G>A
NM_006571.4:c.88+5407G>A (DCTN6) MANE Select NP_006562.1:n.88+5407G>A
Search 100 bp 5'
Search 100 bp 3'