Canonical Allele Identifier: CA10087347

Gene: HDHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17138186C>G , CM000684.2:g.17138186C>G	GRCh38
NC_000022.10:g.17619076C>G , CM000684.1:g.17619076C>G	GRCh37
NC_000022.9:g.15999076C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000155674.9:c.1017G>C	ENSP00000155674.5:p.Arg339Ser
ENST00000336737.8:c.1107G>C MANE Select	ENSP00000337358.4:p.Arg369Ser
ENST00000399852.3:c.507G>C	ENSP00000382745.3:p.Arg169Ser
ENST00000477157.5:n.2950G>C
ENST00000486462.1:n.987G>C
NM_017829.5:c.1017G>C	NP_060299.4:p.Arg339Ser
NM_033070.2:c.1107G>C	NP_149061.1:p.Arg369Ser
XM_005261236.3:c.624G>C	XP_005261293.1:p.Arg208Ser
XM_005261237.3:c.540G>C	XP_005261294.1:p.Arg180Ser
XM_011546126.1:c.903G>C	XP_011544428.1:p.Arg301Ser
XM_011546127.1:c.741G>C	XP_011544429.1:p.Arg247Ser
XM_005261236.4:c.624G>C	XP_005261293.1:p.Arg208Ser
XM_011546126.3:c.903G>C	XP_011544428.1:p.Arg301Ser
XM_017028781.2:c.624G>C	XP_016884270.1:p.Arg208Ser
XM_017028783.2:c.540G>C	XP_016884272.1:p.Arg180Ser
XM_017028784.2:c.540G>C	XP_016884273.1:p.Arg180Ser
XM_024452232.1:c.699G>C	XP_024308000.1:p.Arg233Ser
XM_024452233.1:c.540G>C	XP_024308001.1:p.Arg180Ser
XR_002958689.1:n.1949G>C
XR_002958690.1:n.2850G>C
NM_033070.3:c.1107G>C MANE Select	NP_149061.1:p.Arg369Ser
NM_017829.6:c.1017G>C	NP_060299.4:p.Arg339Ser