Canonical Allele Identifier: CA359220967

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13793544-G-A
• MyVariant Identifiers: chr5:g.13793653G>A (hg19) ; chr5:g.13793544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793544G>A , CM000667.2:g.13793544G>A	GRCh38
NC_000005.9:g.13793653G>A , CM000667.1:g.13793653G>A	GRCh37
NC_000005.8:g.13846653G>A	NCBI36
NG_013081.1:g.155937C>T
NG_013081.2:g.155937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8195C>T MANE Select	ENSP00000265104.4:p.Pro2732Leu
ENST00000681290.1:c.8150C>T	ENSP00000505288.1:p.Pro2717Leu
ENST00000265104.4:c.8195C>T	ENSP00000265104.4:p.Pro2732Leu
NM_001369.2:c.8195C>T	NP_001360.1:p.Pro2732Leu
XM_005248262.2:c.8150C>T	XP_005248319.1:p.Pro2717Leu
XM_011513990.1:c.8195C>T	XP_011512292.1:p.Pro2732Leu
XR_925598.1:n.8402C>T
XM_005248262.3:c.8303C>T	XP_005248319.2:p.Pro2768Leu
XM_017009177.1:c.8303C>T	XP_016864666.1:p.Pro2768Leu
XM_017009178.1:c.7208C>T	XP_016864667.1:p.Pro2403Leu
XM_017009179.2:c.7208C>T	XP_016864668.1:p.Pro2403Leu
XM_017009180.1:c.8303C>T	XP_016864669.1:p.Pro2768Leu
XM_017009181.1:c.8303C>T	XP_016864670.1:p.Pro2768Leu
XM_017009182.1:c.8303C>T	XP_016864671.1:p.Pro2768Leu
XM_017009183.1:c.8303C>T	XP_016864672.1:p.Pro2768Leu
XM_017009184.1:c.8303C>T	XP_016864673.1:p.Pro2768Leu
XM_017009185.1:c.3392C>T	XP_016864674.1:p.Pro1131Leu
XM_017009186.1:c.2945C>T	XP_016864675.1:p.Pro982Leu
XM_017009188.1:c.2282C>T	XP_016864677.1:p.Pro761Leu
XM_024454388.1:c.7208C>T	XP_024310156.1:p.Pro2403Leu
XM_024454389.1:c.6797C>T	XP_024310157.1:p.Pro2266Leu
XR_001742034.1:n.8320C>T
XR_001742035.1:n.8320C>T
NM_001369.3:c.8195C>T MANE Select	NP_001360.1:p.Pro2732Leu