Canonical Allele Identifier: CA3561939
Gene: DUSP1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.172769749A>G
GRCh37 chr5:g.172196752A>G
Revel Score:
ENST00000239223 (MANE Select) 0.224
ENST00000457103 0.224
ENST00000434080 0.224
gnomAD v2:
5:172196752 A / G
gnomAD v3:
5:172769749 A / G
gnomAD v4:
chr5-172769749-A-G
Joint Max Group AF 0.03747804 (NFE)
Genomes Max Group AF 0.03414409 (NFE)
Exomes Max Group AF 0.03761824 (NFE)
dbSNP:
34471628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172769749A>G , CM000667.2:g.172769749A>G GRCh38
NC_000005.9:g.172196752A>G , CM000667.1:g.172196752A>G GRCh37
NC_000005.8:g.172129358A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239223.4:c.559T>C MANE Select ENSP00000239223.3:p.Tyr187His
ENST00000239223.3:c.559T>C ENSP00000239223.3:p.Tyr187His
NM_004417.3:c.559T>C NP_004408.1:p.Tyr187His
NM_004417.4:c.559T>C MANE Select NP_004408.1:p.Tyr187His
Search 100 bp 5'
Search 100 bp 3'