Canonical Allele Identifier: CA3217025

Gene: DROSHA

Linked Data

• dbSNP Id: rs758819754
• ExAC: 5:31401454 G / C
• gnomAD v2: 5-31401454-G-C
• gnomAD v4: 5-31401347-G-C
• MyVariant Identifiers: chr5:g.31401454G>C (hg19) ; chr5:g.31401347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31401347G>C , CM000667.2:g.31401347G>C	GRCh38
NC_000005.9:g.31401454G>C , CM000667.1:g.31401454G>C	GRCh37
NC_000005.8:g.31437211G>C	NCBI36
NG_051574.1:g.135829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344624.8:c.*85C>G MANE Select	ENSP00000339845.3:n.*85C>G
ENST00000344624.7:c.*85C>G	ENSP00000339845.3:n.*85C>G
ENST00000442743.5:c.*85C>G	ENSP00000409335.1:n.*85C>G
ENST00000511367.6:c.*85C>G	ENSP00000425979.2:n.*85C>G
ENST00000513349.5:c.*85C>G	ENSP00000424161.1:n.*85C>G
ENST00000514927.6:n.367C>G
NM_001100412.1:c.*85C>G	NP_001093882.1:n.*85C>G
NM_013235.4:c.*85C>G	NP_037367.3:n.*85C>G
XM_005248291.2:c.*85C>G	XP_005248348.1:n.*85C>G
XM_005248292.2:c.*85C>G	XP_005248349.1:n.*85C>G
XM_005248293.2:c.*85C>G	XP_005248350.1:n.*85C>G
XM_005248294.2:c.*85C>G	XP_005248351.1:n.*85C>G
XM_005248291.4:c.*85C>G	XP_005248348.1:n.*85C>G
XM_005248292.4:c.*85C>G	XP_005248349.1:n.*85C>G
XM_005248293.4:c.*85C>G	XP_005248350.1:n.*85C>G
XM_005248294.4:c.*85C>G	XP_005248351.1:n.*85C>G
XM_017009399.2:c.*85C>G	XP_016864888.1:n.*85C>G
XM_017009400.2:c.*85C>G	XP_016864889.1:n.*85C>G
XM_017009401.2:c.*85C>G	XP_016864890.1:n.*85C>G
XM_017009402.1:c.*85C>G	XP_016864891.1:n.*85C>G
XM_024446033.1:c.*85C>G	XP_024301801.1:n.*85C>G
XM_024446034.1:c.*85C>G	XP_024301802.1:n.*85C>G
XM_024446035.1:c.*85C>G	XP_024301803.1:n.*85C>G
NM_001100412.2:c.*85C>G	NP_001093882.1:n.*85C>G
NM_013235.5:c.*85C>G	NP_037367.3:n.*85C>G
NM_001382508.1:c.*85C>G MANE Select	NP_001369437.1:n.*85C>G