Canonical Allele Identifier: CA10087595

Gene: HDHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17145105T>C , CM000684.2:g.17145105T>C	GRCh38
NC_000022.10:g.17625995T>C , CM000684.1:g.17625995T>C	GRCh37
NC_000022.9:g.16005995T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000155674.9:c.366A>G	ENSP00000155674.5:p.Arg122=
ENST00000336737.8:c.456A>G MANE Select	ENSP00000337358.4:p.Arg152=
ENST00000399852.3:c.127-1974A>G	ENSP00000382745.3:n.127-1974A>G
NM_017829.5:c.366A>G	NP_060299.4:p.Arg122=
NM_033070.2:c.456A>G	NP_149061.1:p.Arg152=
XM_005261236.3:c.-28A>G	XP_005261293.1:n.-28A>G
XM_011546126.1:c.252A>G	XP_011544428.1:p.Arg84=
XM_011546127.1:c.90A>G	XP_011544429.1:p.Arg30=
XM_005261236.4:c.-28A>G	XP_005261293.1:n.-28A>G
XM_011546126.3:c.252A>G	XP_011544428.1:p.Arg84=
XM_017028781.2:c.-28A>G	XP_016884270.1:n.-28A>G
XM_017028783.2:c.-928A>G	XP_016884272.1:n.-928A>G
XM_017028784.2:c.-928A>G	XP_016884273.1:n.-928A>G
XM_024452232.1:c.-928A>G	XP_024308000.1:n.-928A>G
XM_024452233.1:c.-928A>G	XP_024308001.1:n.-928A>G
XR_002958689.1:n.482A>G
XR_002958690.1:n.482A>G
NM_033070.3:c.456A>G MANE Select	NP_149061.1:p.Arg152=
NM_017829.6:c.366A>G	NP_060299.4:p.Arg122=