Canonical Allele Identifier: CA359199945

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829668C>A (hg19) ; chr5:g.13829559C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829559C>A , CM000667.2:g.13829559C>A	GRCh38
NC_000005.9:g.13829668C>A , CM000667.1:g.13829668C>A	GRCh37
NC_000005.8:g.13882668C>A	NCBI36
NG_013081.1:g.119922G>T
NG_013081.2:g.119922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1326G>T
ENST00000265104.5:c.6395G>T MANE Select	ENSP00000265104.4:p.Arg2132Met
ENST00000681290.1:c.6350G>T	ENSP00000505288.1:p.Arg2117Met
ENST00000265104.4:c.6395G>T	ENSP00000265104.4:p.Arg2132Met
NM_001369.2:c.6395G>T	NP_001360.1:p.Arg2132Met
XM_005248262.2:c.6350G>T	XP_005248319.1:p.Arg2117Met
XM_011513990.1:c.6395G>T	XP_011512292.1:p.Arg2132Met
XR_925598.1:n.6602G>T
XM_005248262.3:c.6503G>T	XP_005248319.2:p.Arg2168Met
XM_017009177.1:c.6503G>T	XP_016864666.1:p.Arg2168Met
XM_017009178.1:c.5408G>T	XP_016864667.1:p.Arg1803Met
XM_017009179.2:c.5408G>T	XP_016864668.1:p.Arg1803Met
XM_017009180.1:c.6503G>T	XP_016864669.1:p.Arg2168Met
XM_017009181.1:c.6503G>T	XP_016864670.1:p.Arg2168Met
XM_017009182.1:c.6503G>T	XP_016864671.1:p.Arg2168Met
XM_017009183.1:c.6503G>T	XP_016864672.1:p.Arg2168Met
XM_017009184.1:c.6503G>T	XP_016864673.1:p.Arg2168Met
XM_017009185.1:c.1592G>T	XP_016864674.1:p.Arg531Met
XM_017009186.1:c.1145G>T	XP_016864675.1:p.Arg382Met
XM_017009187.1:c.6503G>T	XP_016864676.1:p.Arg2168Met
XM_017009188.1:c.482G>T	XP_016864677.1:p.Arg161Met
XM_024454388.1:c.5408G>T	XP_024310156.1:p.Arg1803Met
XM_024454389.1:c.4997G>T	XP_024310157.1:p.Arg1666Met
XR_001742034.1:n.6520G>T
XR_001742035.1:n.6520G>T
NM_001369.3:c.6395G>T MANE Select	NP_001360.1:p.Arg2132Met