Canonical Allele Identifier: CA359190334

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752354G>C (hg19) ; chr5:g.13752245G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752245G>C , CM000667.2:g.13752245G>C	GRCh38
NC_000005.9:g.13752354G>C , CM000667.1:g.13752354G>C	GRCh37
NC_000005.8:g.13805354G>C	NCBI36
NG_013081.1:g.197236C>G
NG_013081.2:g.197236C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10917C>G MANE Select	ENSP00000265104.4:p.Asp3639Glu
ENST00000681290.1:c.10872C>G	ENSP00000505288.1:p.Asp3624Glu
ENST00000265104.4:c.10917C>G	ENSP00000265104.4:p.Asp3639Glu
NM_001369.2:c.10917C>G	NP_001360.1:p.Asp3639Glu
XM_005248262.2:c.10872C>G	XP_005248319.1:p.Asp3624Glu
XM_005248262.3:c.11025C>G	XP_005248319.2:p.Asp3675Glu
XM_017009177.1:c.11025C>G	XP_016864666.1:p.Asp3675Glu
XM_017009178.1:c.9930C>G	XP_016864667.1:p.Asp3310Glu
XM_017009179.2:c.9930C>G	XP_016864668.1:p.Asp3310Glu
XM_017009180.1:c.11025C>G	XP_016864669.1:p.Asp3675Glu
XM_017009181.1:c.11025C>G	XP_016864670.1:p.Asp3675Glu
XM_017009182.1:c.11025C>G	XP_016864671.1:p.Asp3675Glu
XM_017009185.1:c.6114C>G	XP_016864674.1:p.Asp2038Glu
XM_017009186.1:c.5667C>G	XP_016864675.1:p.Asp1889Glu
XM_017009188.1:c.5004C>G	XP_016864677.1:p.Asp1668Glu
XM_024454388.1:c.9930C>G	XP_024310156.1:p.Asp3310Glu
XM_024454389.1:c.9519C>G	XP_024310157.1:p.Asp3173Glu
NM_001369.3:c.10917C>G MANE Select	NP_001360.1:p.Asp3639Glu