Canonical Allele Identifier: CA443273608
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13886086T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13885977T>C , CM000667.2:g.13885977T>C GRCh38
NC_000005.9:g.13886086T>C , CM000667.1:g.13886086T>C GRCh37
NC_000005.8:g.13939086T>C NCBI36
NG_013081.1:g.63504A>G
NG_013081.2:g.63504A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.2730A>G MANE Select ENSP00000265104.4:p.Lys910=
ENST00000681290.1:c.2685A>G ENSP00000505288.1:p.Lys895=
ENST00000265104.4:c.2730A>G ENSP00000265104.4:p.Lys910=
NM_001369.2:c.2730A>G NP_001360.1:p.Lys910=
XM_005248262.2:c.2685A>G XP_005248319.1:p.Lys895=
XM_011513990.1:c.2730A>G XP_011512292.1:p.Lys910=
XR_925598.1:n.2937A>G
XM_005248262.3:c.2838A>G XP_005248319.2:p.Lys946=
XM_017009177.1:c.2838A>G XP_016864666.1:p.Lys946=
XM_017009178.1:c.1743A>G XP_016864667.1:p.Lys581=
XM_017009179.2:c.1743A>G XP_016864668.1:p.Lys581=
XM_017009180.1:c.2838A>G XP_016864669.1:p.Lys946=
XM_017009181.1:c.2838A>G XP_016864670.1:p.Lys946=
XM_017009182.1:c.2838A>G XP_016864671.1:p.Lys946=
XM_017009183.1:c.2838A>G XP_016864672.1:p.Lys946=
XM_017009184.1:c.2838A>G XP_016864673.1:p.Lys946=
XM_017009187.1:c.2838A>G XP_016864676.1:p.Lys946=
XM_024454388.1:c.1743A>G XP_024310156.1:p.Lys581=
XM_024454389.1:c.1332A>G XP_024310157.1:p.Lys444=
XR_001742034.1:n.2855A>G
XR_001742035.1:n.2855A>G
NM_001369.3:c.2730A>G MANE Select NP_001360.1:p.Lys910=