Canonical Allele Identifier: CA379598148

Gene: DENND5A

Linked Data

• dbSNP Id: rs1262447188
• gnomAD v4: 11-9203882-A-G
• MyVariant Identifiers: chr11:g.9225429A>G (hg19) ; chr11:g.9203882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203882A>G , CM000673.2:g.9203882A>G	GRCh38
NC_000011.9:g.9225429A>G , CM000673.1:g.9225429A>G	GRCh37
NC_000011.8:g.9182005A>G	NCBI36
NG_053019.1:g.66454T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.727T>C MANE Select	ENSP00000328524.3:p.Tyr243His
ENST00000530780.2:c.*553T>C	ENSP00000433925.1:n.*553T>C
ENST00000530867.2:n.516T>C
ENST00000532696.2:n.650T>C
ENST00000679446.1:n.648T>C
ENST00000679460.1:n.516T>C
ENST00000679568.1:c.727T>C	ENSP00000505860.1:p.Tyr243His
ENST00000679745.1:n.516T>C
ENST00000679999.1:c.727T>C	ENSP00000505198.1:p.Tyr243His
ENST00000680252.1:c.516T>C
ENST00000680294.1:c.727T>C	ENSP00000506113.1:p.Tyr243His
ENST00000680470.1:c.727T>C	ENSP00000505975.1:p.Tyr243His
ENST00000680554.1:c.439T>C	ENSP00000505621.1:p.Tyr147His
ENST00000680576.1:n.516T>C
ENST00000680599.1:n.644T>C
ENST00000680742.1:c.727T>C	ENSP00000505206.1:p.Tyr243His
ENST00000680885.1:n.648T>C
ENST00000681158.1:c.516T>C
ENST00000681173.1:n.516T>C
ENST00000681203.1:c.655T>C	ENSP00000506456.1:p.Tyr219His
ENST00000681425.1:n.648T>C
ENST00000681915.1:n.516T>C
ENST00000328194.7:c.727T>C	ENSP00000328524.3:p.Tyr243His
ENST00000526707.5:c.655T>C	ENSP00000436780.1:p.Tyr219His
ENST00000530044.5:c.727T>C	ENSP00000435866.1:p.Tyr243His
ENST00000532696.1:n.482T>C
NM_001243254.1:c.727T>C	NP_001230183.1:p.Tyr243His
NM_015213.3:c.727T>C	NP_056028.2:p.Tyr243His
XM_005252832.1:c.727T>C	XP_005252889.1:p.Tyr243His
XM_011519952.1:c.727T>C	XP_011518254.1:p.Tyr243His
XR_242782.2:n.992T>C
XR_930851.1:n.992T>C
XR_930852.1:n.992T>C
XR_930853.1:n.992T>C
NM_001348749.1:c.655T>C	NP_001335678.1:p.Tyr219His
NM_001348750.1:c.439T>C	NP_001335679.1:p.Tyr147His
NR_145966.2:n.984T>C
NM_015213.4:c.727T>C MANE Select	NP_056028.2:p.Tyr243His
NM_001243254.2:c.727T>C	NP_001230183.1:p.Tyr243His
NM_001348749.2:c.655T>C	NP_001335678.1:p.Tyr219His
NM_001348750.2:c.439T>C	NP_001335679.1:p.Tyr147His