Canonical Allele Identifier: CA359212566

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841904-T-G
• MyVariant Identifiers: chr5:g.13842013T>G (hg19) ; chr5:g.13841904T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841904T>G , CM000667.2:g.13841904T>G	GRCh38
NC_000005.9:g.13842013T>G , CM000667.1:g.13842013T>G	GRCh37
NC_000005.8:g.13895013T>G	NCBI36
NG_013081.1:g.107577A>C
NG_013081.2:g.107577A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272A>C MANE Select	ENSP00000265104.4:p.Ile1758Leu
ENST00000681290.1:c.5227A>C	ENSP00000505288.1:p.Ile1743Leu
ENST00000265104.4:c.5272A>C	ENSP00000265104.4:p.Ile1758Leu
NM_001369.2:c.5272A>C	NP_001360.1:p.Ile1758Leu
XM_005248262.2:c.5227A>C	XP_005248319.1:p.Ile1743Leu
XM_011513990.1:c.5272A>C	XP_011512292.1:p.Ile1758Leu
XR_925598.1:n.5479A>C
XM_005248262.3:c.5380A>C	XP_005248319.2:p.Ile1794Leu
XM_017009177.1:c.5380A>C	XP_016864666.1:p.Ile1794Leu
XM_017009178.1:c.4285A>C	XP_016864667.1:p.Ile1429Leu
XM_017009179.2:c.4285A>C	XP_016864668.1:p.Ile1429Leu
XM_017009180.1:c.5380A>C	XP_016864669.1:p.Ile1794Leu
XM_017009181.1:c.5380A>C	XP_016864670.1:p.Ile1794Leu
XM_017009182.1:c.5380A>C	XP_016864671.1:p.Ile1794Leu
XM_017009183.1:c.5380A>C	XP_016864672.1:p.Ile1794Leu
XM_017009184.1:c.5380A>C	XP_016864673.1:p.Ile1794Leu
XM_017009185.1:c.469A>C	XP_016864674.1:p.Ile157Leu
XM_017009186.1:c.22A>C	XP_016864675.1:p.Ile8Leu
XM_017009187.1:c.5380A>C	XP_016864676.1:p.Ile1794Leu
XM_024454388.1:c.4285A>C	XP_024310156.1:p.Ile1429Leu
XM_024454389.1:c.3874A>C	XP_024310157.1:p.Ile1292Leu
XR_001742034.1:n.5397A>C
XR_001742035.1:n.5397A>C
NM_001369.3:c.5272A>C MANE Select	NP_001360.1:p.Ile1758Leu