Canonical Allele Identifier: CA5023175
Gene: DNAJA1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.33038830G>A
GRCh37 chr9:g.33038828G>A
Revel Score:
ENST00000330899 (MANE Select) 0.100
ENST00000539152 0.100
ENST00000544625 0.100
gnomAD v2:
9:33038828 G / A
gnomAD v3:
9:33038830 G / A
gnomAD v4:
chr9-33038830-G-A
Joint Max Group AF 0.0000528 (AFR)
Genomes Max Group AF 0.00009568 (AFR)
Exomes Max Group AF 0.00004358 (AMR)
ClinVar RCV:
RCV004081452
ClinVar Variation:
2210029
dbSNP:
374710198
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33038830G>A , CM000671.2:g.33038830G>A GRCh38
NC_000009.11:g.33038828G>A , CM000671.1:g.33038828G>A GRCh37
NC_000009.10:g.33028828G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000330899.5:c.1121G>A MANE Select ENSP00000369127.3:p.Arg374His
ENST00000330899.4:c.1121G>A ENSP00000369127.3:p.Arg374His
NM_001314039.1:c.650G>A NP_001300968.1:p.Arg217His
NM_001539.2:c.1121G>A NP_001530.1:p.Arg374His
NM_001539.3:c.1121G>A NP_001530.1:p.Arg374His
NM_001539.4:c.1121G>A MANE Select NP_001530.1:p.Arg374His
NM_001314039.2:c.650G>A NP_001300968.1:p.Arg217His
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