Canonical Allele Identifier: CA473040180

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9141942-G-A
• MyVariant Identifiers: chr11:g.9163489G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141942G>A , CM000673.2:g.9141942G>A	GRCh38
NC_000011.9:g.9163489G>A , CM000673.1:g.9163489G>A	GRCh37
NC_000011.8:g.9120065G>A	NCBI36
NG_053019.1:g.128394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3678C>T MANE Select	ENSP00000328524.3:p.Ala1226=
ENST00000525784.6:n.1540C>T
ENST00000530780.2:c.*3504C>T	ENSP00000433925.1:n.*3504C>T
ENST00000531747.2:n.3349C>T
ENST00000679446.1:n.3599C>T
ENST00000679458.1:n.5079C>T
ENST00000679460.1:n.4740C>T
ENST00000679568.1:c.3678C>T	ENSP00000505860.1:p.Ala1226=
ENST00000679745.1:n.4183C>T
ENST00000679773.1:n.2839C>T
ENST00000679926.1:n.4980C>T
ENST00000679999.1:c.*735C>T	ENSP00000505198.1:n.*735C>T
ENST00000680252.1:c.3345C>T
ENST00000680294.1:c.3471C>T	ENSP00000506113.1:p.Ala1157=
ENST00000680358.1:n.2977C>T
ENST00000680470.1:c.*1459C>T	ENSP00000505975.1:n.*1459C>T
ENST00000680554.1:c.*211C>T	ENSP00000505621.1:n.*211C>T
ENST00000680576.1:n.5154C>T
ENST00000680599.1:n.3719C>T
ENST00000680742.1:c.*179+32C>T	ENSP00000505206.1:n.*179+32C>T
ENST00000680791.1:n.2562C>T
ENST00000680885.1:n.5380C>T
ENST00000681158.1:c.3262C>T
ENST00000681203.1:c.3606C>T	ENSP00000506456.1:p.Ala1202=
ENST00000681371.1:n.3550C>T
ENST00000681425.1:n.4156C>T
ENST00000681639.1:n.1957C>T
ENST00000328194.7:c.3678C>T	ENSP00000328524.3:p.Ala1226=
ENST00000525784.5:c.614C>T
ENST00000527700.5:n.3240C>T
ENST00000528725.5:c.374C>T
ENST00000529977.5:n.1579C>T
ENST00000530044.5:c.3646+32C>T	ENSP00000435866.1:n.3646+32C>T
ENST00000531747.1:c.914C>T
ENST00000533737.5:c.341C>T
NM_001243254.1:c.3646+32C>T	NP_001230183.1:n.3646+32C>T
NM_015213.3:c.3678C>T	NP_056028.2:p.Ala1226=
XM_005252832.1:c.3678C>T	XP_005252889.1:p.Ala1226=
XM_011519952.1:c.3646+32C>T	XP_011518254.1:n.3646+32C>T
XM_011519953.1:c.1776C>T	XP_011518255.1:p.Ala592=
XR_242782.2:n.3860C>T
XR_930851.1:n.3828+32C>T
NM_001348749.1:c.3606C>T	NP_001335678.1:p.Ala1202=
NM_001348750.1:c.3390C>T	NP_001335679.1:p.Ala1130=
NR_145966.2:n.3852C>T
NM_015213.4:c.3678C>T MANE Select	NP_056028.2:p.Ala1226=
NM_001243254.2:c.3646+32C>T	NP_001230183.1:n.3646+32C>T
NM_001348749.2:c.3606C>T	NP_001335678.1:p.Ala1202=
NM_001348750.2:c.3390C>T	NP_001335679.1:p.Ala1130=