Canonical Allele Identifier: CA15325854
Gene: HAUS3 HGNC NCBI
POLN HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.2101369C>T
GRCh37 chr4:g.2103096C>T
gnomAD v2:
4:2103096 C / T
gnomAD v3:
4:2101369 C / T
gnomAD v4:
chr4-2101369-C-T
Joint Max Group AF 0.7238951 (NFE)
Genomes Max Group AF 0.7238951 (NFE)
dbSNP:
1923775
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.2101369C>T , CM000666.2:g.2101369C>T GRCh38
NC_000004.11:g.2103096C>T , CM000666.1:g.2103096C>T GRCh37
NC_000004.10:g.2072894C>T NCBI36
NG_046934.1:g.145796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000672725.1:c.*303-5436G>A (HAUS3) ENSP00000500518.1:n.*303-5436G>A
ENST00000672739.1:c.*2134-5436G>A (HAUS3) ENSP00000500512.1:n.*2134-5436G>A
ENST00000382865.5:c.1983-5436G>A (POLN) ENSP00000372316.1:n.1983-5436G>A
ENST00000511098.1:c.881-5436G>A (POLN)
ENST00000511885.6:c.1983-5436G>A (POLN) MANE Select ENSP00000435506.1:n.1983-5436G>A
ENST00000514858.5:n.990-5436G>A (POLN)
NM_181808.3:c.1983-5436G>A (POLN) NP_861524.2:n.1983-5436G>A
NM_181808.4:c.1983-5436G>A (POLN) MANE Select NP_861524.2:n.1983-5436G>A
Search 100 bp 5'
Search 100 bp 3'