Canonical Allele Identifier: CA359213415

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13913775-C-G
• MyVariant Identifiers: chr5:g.13913884C>G (hg19) ; chr5:g.13913775C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913775C>G , CM000667.2:g.13913775C>G	GRCh38
NC_000005.9:g.13913884C>G , CM000667.1:g.13913884C>G	GRCh37
NC_000005.8:g.13966884C>G	NCBI36
NG_013081.1:g.35706G>C
NG_013081.2:g.35706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1560G>C
ENST00000682376.1:n.5733G>C
ENST00000683011.1:n.1443G>C
ENST00000683967.1:n.3869G>C
ENST00000684013.1:n.2164G>C
ENST00000684099.1:n.2160G>C
ENST00000265104.5:c.1504G>C MANE Select	ENSP00000265104.4:p.Glu502Gln
ENST00000680213.1:c.1264G>C	ENSP00000506622.1:p.Glu422Gln
ENST00000681290.1:c.1459G>C	ENSP00000505288.1:p.Glu487Gln
ENST00000265104.4:c.1504G>C	ENSP00000265104.4:p.Glu502Gln
ENST00000508040.1:n.1912G>C
NM_001369.2:c.1504G>C	NP_001360.1:p.Glu502Gln
XM_005248262.2:c.1459G>C	XP_005248319.1:p.Glu487Gln
XM_011513990.1:c.1504G>C	XP_011512292.1:p.Glu502Gln
XR_925598.1:n.1711G>C
XM_005248262.3:c.1612G>C	XP_005248319.2:p.Glu538Gln
XM_017009177.1:c.1612G>C	XP_016864666.1:p.Glu538Gln
XM_017009178.1:c.517G>C	XP_016864667.1:p.Glu173Gln
XM_017009179.2:c.517G>C	XP_016864668.1:p.Glu173Gln
XM_017009180.1:c.1612G>C	XP_016864669.1:p.Glu538Gln
XM_017009181.1:c.1612G>C	XP_016864670.1:p.Glu538Gln
XM_017009182.1:c.1612G>C	XP_016864671.1:p.Glu538Gln
XM_017009183.1:c.1612G>C	XP_016864672.1:p.Glu538Gln
XM_017009184.1:c.1612G>C	XP_016864673.1:p.Glu538Gln
XM_017009187.1:c.1612G>C	XP_016864676.1:p.Glu538Gln
XM_024454388.1:c.517G>C	XP_024310156.1:p.Glu173Gln
XM_024454389.1:c.106G>C	XP_024310157.1:p.Glu36Gln
XR_001742034.1:n.1629G>C
XR_001742035.1:n.1629G>C
NM_001369.3:c.1504G>C MANE Select	NP_001360.1:p.Glu502Gln