Canonical Allele Identifier: CA359221003

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793656A>T (hg19) ; chr5:g.13793547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793547A>T , CM000667.2:g.13793547A>T	GRCh38
NC_000005.9:g.13793656A>T , CM000667.1:g.13793656A>T	GRCh37
NC_000005.8:g.13846656A>T	NCBI36
NG_013081.1:g.155934T>A
NG_013081.2:g.155934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8192T>A MANE Select	ENSP00000265104.4:p.Leu2731Ter
ENST00000681290.1:c.8147T>A	ENSP00000505288.1:p.Leu2716Ter
ENST00000265104.4:c.8192T>A	ENSP00000265104.4:p.Leu2731Ter
NM_001369.2:c.8192T>A	NP_001360.1:p.Leu2731Ter
XM_005248262.2:c.8147T>A	XP_005248319.1:p.Leu2716Ter
XM_011513990.1:c.8192T>A	XP_011512292.1:p.Leu2731Ter
XR_925598.1:n.8399T>A
XM_005248262.3:c.8300T>A	XP_005248319.2:p.Leu2767Ter
XM_017009177.1:c.8300T>A	XP_016864666.1:p.Leu2767Ter
XM_017009178.1:c.7205T>A	XP_016864667.1:p.Leu2402Ter
XM_017009179.2:c.7205T>A	XP_016864668.1:p.Leu2402Ter
XM_017009180.1:c.8300T>A	XP_016864669.1:p.Leu2767Ter
XM_017009181.1:c.8300T>A	XP_016864670.1:p.Leu2767Ter
XM_017009182.1:c.8300T>A	XP_016864671.1:p.Leu2767Ter
XM_017009183.1:c.8300T>A	XP_016864672.1:p.Leu2767Ter
XM_017009184.1:c.8300T>A	XP_016864673.1:p.Leu2767Ter
XM_017009185.1:c.3389T>A	XP_016864674.1:p.Leu1130Ter
XM_017009186.1:c.2942T>A	XP_016864675.1:p.Leu981Ter
XM_017009188.1:c.2279T>A	XP_016864677.1:p.Leu760Ter
XM_024454388.1:c.7205T>A	XP_024310156.1:p.Leu2402Ter
XM_024454389.1:c.6794T>A	XP_024310157.1:p.Leu2265Ter
XR_001742034.1:n.8317T>A
XR_001742035.1:n.8317T>A
NM_001369.3:c.8192T>A MANE Select	NP_001360.1:p.Leu2731Ter