Canonical Allele Identifier: CA359220967
Gene: DNAH5 HGNC NCBI

Linked Data

gnomAD v4: 5-13793544-G-A

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