Canonical Allele Identifier: CA379597106

Gene: DENND5A

Linked Data

• MyVariant Identifiers: chr11:g.9163491C>G (hg19) ; chr11:g.9141944C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141944C>G , CM000673.2:g.9141944C>G	GRCh38
NC_000011.9:g.9163491C>G , CM000673.1:g.9163491C>G	GRCh37
NC_000011.8:g.9120067C>G	NCBI36
NG_053019.1:g.128392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3676G>C MANE Select	ENSP00000328524.3:p.Ala1226Pro
ENST00000525784.6:n.1538G>C
ENST00000530780.2:c.*3502G>C	ENSP00000433925.1:n.*3502G>C
ENST00000531747.2:n.3347G>C
ENST00000679446.1:n.3597G>C
ENST00000679458.1:n.5077G>C
ENST00000679460.1:n.4738G>C
ENST00000679568.1:c.3676G>C	ENSP00000505860.1:p.Ala1226Pro
ENST00000679745.1:n.4181G>C
ENST00000679773.1:n.2837G>C
ENST00000679926.1:n.4978G>C
ENST00000679999.1:c.*733G>C	ENSP00000505198.1:n.*733G>C
ENST00000680252.1:c.3343G>C
ENST00000680294.1:c.3469G>C	ENSP00000506113.1:p.Ala1157Pro
ENST00000680358.1:n.2975G>C
ENST00000680470.1:c.*1457G>C	ENSP00000505975.1:n.*1457G>C
ENST00000680554.1:c.*209G>C	ENSP00000505621.1:n.*209G>C
ENST00000680576.1:n.5152G>C
ENST00000680599.1:n.3717G>C
ENST00000680742.1:c.*179+30G>C	ENSP00000505206.1:n.*179+30G>C
ENST00000680791.1:n.2560G>C
ENST00000680885.1:n.5378G>C
ENST00000681158.1:c.3260G>C
ENST00000681203.1:c.3604G>C	ENSP00000506456.1:p.Ala1202Pro
ENST00000681371.1:n.3548G>C
ENST00000681425.1:n.4154G>C
ENST00000681639.1:n.1955G>C
ENST00000328194.7:c.3676G>C	ENSP00000328524.3:p.Ala1226Pro
ENST00000525784.5:c.612G>C
ENST00000527700.5:n.3238G>C
ENST00000528725.5:c.372G>C
ENST00000529977.5:n.1577G>C
ENST00000530044.5:c.3646+30G>C	ENSP00000435866.1:n.3646+30G>C
ENST00000531747.1:c.912G>C
ENST00000533737.5:c.339G>C
NM_001243254.1:c.3646+30G>C	NP_001230183.1:n.3646+30G>C
NM_015213.3:c.3676G>C	NP_056028.2:p.Ala1226Pro
XM_005252832.1:c.3676G>C	XP_005252889.1:p.Ala1226Pro
XM_011519952.1:c.3646+30G>C	XP_011518254.1:n.3646+30G>C
XM_011519953.1:c.1774G>C	XP_011518255.1:p.Ala592Pro
XR_242782.2:n.3858G>C
XR_930851.1:n.3828+30G>C
NM_001348749.1:c.3604G>C	NP_001335678.1:p.Ala1202Pro
NM_001348750.1:c.3388G>C	NP_001335679.1:p.Ala1130Pro
NR_145966.2:n.3850G>C
NM_015213.4:c.3676G>C MANE Select	NP_056028.2:p.Ala1226Pro
NM_001243254.2:c.3646+30G>C	NP_001230183.1:n.3646+30G>C
NM_001348749.2:c.3604G>C	NP_001335678.1:p.Ala1202Pro
NM_001348750.2:c.3388G>C	NP_001335679.1:p.Ala1130Pro