Canonical Allele Identifier: CA2673393817
Gene: DROSHA HGNC NCBI

Linked Data

gnomAD v4: 5-31401343-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31401343C>A , CM000667.2:g.31401343C>A GRCh38
NC_000005.9:g.31401450C>A , CM000667.1:g.31401450C>A GRCh37
NC_000005.8:g.31437207C>A NCBI36
NG_051574.1:g.135833G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344624.8:c.*89G>T MANE Select ENSP00000339845.3:n.*89G>T
ENST00000344624.7:c.*89G>T ENSP00000339845.3:n.*89G>T
ENST00000442743.5:c.*89G>T ENSP00000409335.1:n.*89G>T
ENST00000511367.6:c.*89G>T ENSP00000425979.2:n.*89G>T
ENST00000513349.5:c.*89G>T ENSP00000424161.1:n.*89G>T
ENST00000514927.6:n.371G>T
NM_001100412.1:c.*89G>T NP_001093882.1:n.*89G>T
NM_013235.4:c.*89G>T NP_037367.3:n.*89G>T
XM_005248291.2:c.*89G>T XP_005248348.1:n.*89G>T
XM_005248292.2:c.*89G>T XP_005248349.1:n.*89G>T
XM_005248293.2:c.*89G>T XP_005248350.1:n.*89G>T
XM_005248294.2:c.*89G>T XP_005248351.1:n.*89G>T
XM_005248291.4:c.*89G>T XP_005248348.1:n.*89G>T
XM_005248292.4:c.*89G>T XP_005248349.1:n.*89G>T
XM_005248293.4:c.*89G>T XP_005248350.1:n.*89G>T
XM_005248294.4:c.*89G>T XP_005248351.1:n.*89G>T
XM_017009399.2:c.*89G>T XP_016864888.1:n.*89G>T
XM_017009400.2:c.*89G>T XP_016864889.1:n.*89G>T
XM_017009401.2:c.*89G>T XP_016864890.1:n.*89G>T
XM_017009402.1:c.*89G>T XP_016864891.1:n.*89G>T
XM_024446033.1:c.*89G>T XP_024301801.1:n.*89G>T
XM_024446034.1:c.*89G>T XP_024301802.1:n.*89G>T
XM_024446035.1:c.*89G>T XP_024301803.1:n.*89G>T
NM_001100412.2:c.*89G>T NP_001093882.1:n.*89G>T
NM_013235.5:c.*89G>T NP_037367.3:n.*89G>T
NM_001382508.1:c.*89G>T MANE Select NP_001369437.1:n.*89G>T