Canonical Allele Identifier: CA359325325

Gene: DROSHA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31508710C>A , CM000667.2:g.31508710C>A	GRCh38
NC_000005.9:g.31508817C>A , CM000667.1:g.31508817C>A	GRCh37
NC_000005.8:g.31544574C>A	NCBI36
NG_051574.1:g.28466G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001382508.1:c.1498G>T MANE Select	NP_001369437.1:p.Glu500Ter
ENST00000344624.8:c.1498G>T MANE Select	ENSP00000339845.3:p.Glu500Ter
NM_001100412.1:c.1387G>T	NP_001093882.1:p.Glu463Ter
NM_001100412.2:c.1387G>T	NP_001093882.1:p.Glu463Ter
NM_013235.4:c.1498G>T	NP_037367.3:p.Glu500Ter
NM_013235.5:c.1498G>T	NP_037367.3:p.Glu500Ter
ENST00000344624.7:c.1498G>T	ENSP00000339845.3:p.Glu500Ter
ENST00000442743.5:c.1387G>T	ENSP00000409335.1:p.Glu463Ter
ENST00000511367.6:c.1498G>T	ENSP00000425979.2:p.Glu500Ter
ENST00000512076.1:c.782G>T
ENST00000513349.5:c.1387G>T	ENSP00000424161.1:p.Glu463Ter
XM_005248291.2:c.1498G>T	XP_005248348.1:p.Glu500Ter
XM_005248291.4:c.1498G>T	XP_005248348.1:p.Glu500Ter
XM_005248292.2:c.1498G>T	XP_005248349.1:p.Glu500Ter
XM_005248292.4:c.1498G>T	XP_005248349.1:p.Glu500Ter
XM_005248293.2:c.1405G>T	XP_005248350.1:p.Glu469Ter
XM_005248293.4:c.1405G>T	XP_005248350.1:p.Glu469Ter
XM_005248294.2:c.1294G>T	XP_005248351.1:p.Glu432Ter
XM_005248294.4:c.1294G>T	XP_005248351.1:p.Glu432Ter
XM_011514033.1:c.1498G>T	XP_011512335.1:p.Glu500Ter
XM_011514033.3:c.1498G>T	XP_011512335.1:p.Glu500Ter
XM_017009399.2:c.1405G>T	XP_016864888.1:p.Glu469Ter
XM_017009400.2:c.1387G>T	XP_016864889.1:p.Glu463Ter
XM_017009401.2:c.1294G>T	XP_016864890.1:p.Glu432Ter
XM_024446033.1:c.1498G>T	XP_024301801.1:p.Glu500Ter
XM_024446034.1:c.1498G>T	XP_024301802.1:p.Glu500Ter
XM_024446035.1:c.1387G>T	XP_024301803.1:p.Glu463Ter
XM_024446036.1:c.1498G>T	XP_024301804.1:p.Glu500Ter