Canonical Allele Identifier: CA359209307

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776632-G-C
• MyVariant Identifiers: chr5:g.13776741G>C (hg19) ; chr5:g.13776632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776632G>C , CM000667.2:g.13776632G>C	GRCh38
NC_000005.9:g.13776741G>C , CM000667.1:g.13776741G>C	GRCh37
NC_000005.8:g.13829741G>C	NCBI36
NG_013081.1:g.172849C>G
NG_013081.2:g.172849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9180C>G MANE Select	ENSP00000265104.4:p.Phe3060Leu
ENST00000681290.1:c.9135C>G	ENSP00000505288.1:p.Phe3045Leu
ENST00000265104.4:c.9180C>G	ENSP00000265104.4:p.Phe3060Leu
NM_001369.2:c.9180C>G	NP_001360.1:p.Phe3060Leu
XM_005248262.2:c.9135C>G	XP_005248319.1:p.Phe3045Leu
XM_005248262.3:c.9288C>G	XP_005248319.2:p.Phe3096Leu
XM_017009177.1:c.9288C>G	XP_016864666.1:p.Phe3096Leu
XM_017009178.1:c.8193C>G	XP_016864667.1:p.Phe2731Leu
XM_017009179.2:c.8193C>G	XP_016864668.1:p.Phe2731Leu
XM_017009180.1:c.9288C>G	XP_016864669.1:p.Phe3096Leu
XM_017009181.1:c.9288C>G	XP_016864670.1:p.Phe3096Leu
XM_017009182.1:c.9288C>G	XP_016864671.1:p.Phe3096Leu
XM_017009183.1:c.9288C>G	XP_016864672.1:p.Phe3096Leu
XM_017009184.1:c.*67C>G	XP_016864673.1:n.*67C>G
XM_017009185.1:c.4377C>G	XP_016864674.1:p.Phe1459Leu
XM_017009186.1:c.3930C>G	XP_016864675.1:p.Phe1310Leu
XM_017009188.1:c.3267C>G	XP_016864677.1:p.Phe1089Leu
XM_024454388.1:c.8193C>G	XP_024310156.1:p.Phe2731Leu
XM_024454389.1:c.7782C>G	XP_024310157.1:p.Phe2594Leu
XR_001742034.1:n.9174C>G
XR_001742035.1:n.9169C>G
NM_001369.3:c.9180C>G MANE Select	NP_001360.1:p.Phe3060Leu