Canonical Allele Identifier: CA443260255
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13735938A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735829A>C , CM000667.2:g.13735829A>C GRCh38
NC_000005.9:g.13735938A>C , CM000667.1:g.13735938A>C GRCh37
NC_000005.8:g.13788938A>C NCBI36
NG_013081.1:g.213652T>G
NG_013081.2:g.213652T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11559T>G MANE Select ENSP00000265104.4:p.Leu3853=
ENST00000681290.1:c.11514T>G ENSP00000505288.1:p.Leu3838=
ENST00000265104.4:c.11559T>G ENSP00000265104.4:p.Leu3853=
NM_001369.2:c.11559T>G NP_001360.1:p.Leu3853=
XM_005248262.2:c.11514T>G XP_005248319.1:p.Leu3838=
XM_005248262.3:c.11667T>G XP_005248319.2:p.Leu3889=
XM_017009177.1:c.11667T>G XP_016864666.1:p.Leu3889=
XM_017009178.1:c.10572T>G XP_016864667.1:p.Leu3524=
XM_017009179.2:c.10572T>G XP_016864668.1:p.Leu3524=
XM_017009180.1:c.11667T>G XP_016864669.1:p.Leu3889=
XM_017009181.1:c.11667T>G XP_016864670.1:p.Leu3889=
XM_017009182.1:c.11423T>G XP_016864671.1:p.Phe3808Cys
XM_017009185.1:c.6756T>G XP_016864674.1:p.Leu2252=
XM_017009186.1:c.6309T>G XP_016864675.1:p.Leu2103=
XM_017009188.1:c.5646T>G XP_016864677.1:p.Leu1882=
XM_024454388.1:c.10572T>G XP_024310156.1:p.Leu3524=
XM_024454389.1:c.10161T>G XP_024310157.1:p.Leu3387=
NM_001369.3:c.11559T>G MANE Select NP_001360.1:p.Leu3853=