Canonical Allele Identifier: CA5877799

Gene: DENND5A

Linked Data

• dbSNP Id: rs753631716
• ExAC: 11:9225626 A / G
• gnomAD v2: 11-9225626-A-G
• gnomAD v4: 11-9204079-A-G
• MyVariant Identifiers: chr11:g.9225626A>G (hg19) ; chr11:g.9204079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204079A>G , CM000673.2:g.9204079A>G	GRCh38
NC_000011.9:g.9225626A>G , CM000673.1:g.9225626A>G	GRCh37
NC_000011.8:g.9182202A>G	NCBI36
NG_053019.1:g.66257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.530T>C MANE Select	ENSP00000328524.3:p.Met177Thr
ENST00000530780.2:c.*356T>C	ENSP00000433925.1:n.*356T>C
ENST00000530867.2:n.319T>C
ENST00000532696.2:n.453T>C
ENST00000679446.1:n.451T>C
ENST00000679460.1:n.319T>C
ENST00000679568.1:c.530T>C	ENSP00000505860.1:p.Met177Thr
ENST00000679745.1:n.319T>C
ENST00000679999.1:c.530T>C	ENSP00000505198.1:p.Met177Thr
ENST00000680252.1:c.319T>C
ENST00000680294.1:c.530T>C	ENSP00000506113.1:p.Met177Thr
ENST00000680470.1:c.530T>C	ENSP00000505975.1:p.Met177Thr
ENST00000680554.1:c.242T>C	ENSP00000505621.1:p.Met81Thr
ENST00000680576.1:n.319T>C
ENST00000680599.1:n.447T>C
ENST00000680742.1:c.530T>C	ENSP00000505206.1:p.Met177Thr
ENST00000680885.1:n.451T>C
ENST00000681158.1:c.319T>C
ENST00000681173.1:n.319T>C
ENST00000681203.1:c.458T>C	ENSP00000506456.1:p.Met153Thr
ENST00000681425.1:n.451T>C
ENST00000681915.1:n.319T>C
ENST00000328194.7:c.530T>C	ENSP00000328524.3:p.Met177Thr
ENST00000526707.5:c.458T>C	ENSP00000436780.1:p.Met153Thr
ENST00000530044.5:c.530T>C	ENSP00000435866.1:p.Met177Thr
ENST00000530780.1:c.*356T>C	ENSP00000433925.1:n.*356T>C
ENST00000532696.1:n.285T>C
NM_001243254.1:c.530T>C	NP_001230183.1:p.Met177Thr
NM_015213.3:c.530T>C	NP_056028.2:p.Met177Thr
XM_005252832.1:c.530T>C	XP_005252889.1:p.Met177Thr
XM_011519952.1:c.530T>C	XP_011518254.1:p.Met177Thr
XR_242782.2:n.795T>C
XR_930851.1:n.795T>C
XR_930852.1:n.795T>C
XR_930853.1:n.795T>C
NM_001348749.1:c.458T>C	NP_001335678.1:p.Met153Thr
NM_001348750.1:c.242T>C	NP_001335679.1:p.Met81Thr
NR_145966.2:n.787T>C
NM_015213.4:c.530T>C MANE Select	NP_056028.2:p.Met177Thr
NM_001243254.2:c.530T>C	NP_001230183.1:p.Met177Thr
NM_001348749.2:c.458T>C	NP_001335678.1:p.Met153Thr
NM_001348750.2:c.242T>C	NP_001335679.1:p.Met81Thr