Canonical Allele Identifier: CA379598899

Gene: DENND5A

Linked Data

• gnomAD v4: 11-9203990-T-G
• MyVariant Identifiers: chr11:g.9225537T>G (hg19) ; chr11:g.9203990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203990T>G , CM000673.2:g.9203990T>G	GRCh38
NC_000011.9:g.9225537T>G , CM000673.1:g.9225537T>G	GRCh37
NC_000011.8:g.9182113T>G	NCBI36
NG_053019.1:g.66346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.619A>C MANE Select	ENSP00000328524.3:p.Ile207Leu
ENST00000530780.2:c.*445A>C	ENSP00000433925.1:n.*445A>C
ENST00000530867.2:n.408A>C
ENST00000532696.2:n.542A>C
ENST00000679446.1:n.540A>C
ENST00000679460.1:n.408A>C
ENST00000679568.1:c.619A>C	ENSP00000505860.1:p.Ile207Leu
ENST00000679745.1:n.408A>C
ENST00000679999.1:c.619A>C	ENSP00000505198.1:p.Ile207Leu
ENST00000680252.1:c.408A>C
ENST00000680294.1:c.619A>C	ENSP00000506113.1:p.Ile207Leu
ENST00000680470.1:c.619A>C	ENSP00000505975.1:p.Ile207Leu
ENST00000680554.1:c.331A>C	ENSP00000505621.1:p.Ile111Leu
ENST00000680576.1:n.408A>C
ENST00000680599.1:n.536A>C
ENST00000680742.1:c.619A>C	ENSP00000505206.1:p.Ile207Leu
ENST00000680885.1:n.540A>C
ENST00000681158.1:c.408A>C
ENST00000681173.1:n.408A>C
ENST00000681203.1:c.547A>C	ENSP00000506456.1:p.Ile183Leu
ENST00000681425.1:n.540A>C
ENST00000681915.1:n.408A>C
ENST00000328194.7:c.619A>C	ENSP00000328524.3:p.Ile207Leu
ENST00000526707.5:c.547A>C	ENSP00000436780.1:p.Ile183Leu
ENST00000530044.5:c.619A>C	ENSP00000435866.1:p.Ile207Leu
ENST00000532696.1:n.374A>C
NM_001243254.1:c.619A>C	NP_001230183.1:p.Ile207Leu
NM_015213.3:c.619A>C	NP_056028.2:p.Ile207Leu
XM_005252832.1:c.619A>C	XP_005252889.1:p.Ile207Leu
XM_011519952.1:c.619A>C	XP_011518254.1:p.Ile207Leu
XR_242782.2:n.884A>C
XR_930851.1:n.884A>C
XR_930852.1:n.884A>C
XR_930853.1:n.884A>C
NM_001348749.1:c.547A>C	NP_001335678.1:p.Ile183Leu
NM_001348750.1:c.331A>C	NP_001335679.1:p.Ile111Leu
NR_145966.2:n.876A>C
NM_015213.4:c.619A>C MANE Select	NP_056028.2:p.Ile207Leu
NM_001243254.2:c.619A>C	NP_001230183.1:p.Ile207Leu
NM_001348749.2:c.547A>C	NP_001335678.1:p.Ile183Leu
NM_001348750.2:c.331A>C	NP_001335679.1:p.Ile111Leu