Canonical Allele Identifier: CA3562017
Gene: DUSP1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.172770578G>A
GRCh37 chr5:g.172197581G>A
gnomAD v2:
5:172197581 G / A
gnomAD v3:
5:172770578 G / A
gnomAD v4:
chr5-172770578-G-A
Joint Max Group AF 0.00007971 (AMR)
Genomes Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00007846 (AMR)
dbSNP:
34507926
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172770578G>A , CM000667.2:g.172770578G>A GRCh38
NC_000005.9:g.172197581G>A , CM000667.1:g.172197581G>A GRCh37
NC_000005.8:g.172130187G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239223.4:c.367+8C>T MANE Select ENSP00000239223.3:n.367+8C>T
ENST00000239223.3:c.367+8C>T ENSP00000239223.3:n.367+8C>T
NM_004417.3:c.367+8C>T NP_004408.1:n.367+8C>T
NM_004417.4:c.367+8C>T MANE Select NP_004408.1:n.367+8C>T
Search 100 bp 5'
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