Canonical Allele Identifier: CA359209537

Gene: DNAH5

Linked Data

• dbSNP Id: rs77477793
• gnomAD v2: 5-13776771-G-T
• gnomAD v4: 5-13776662-G-T
• MyVariant Identifiers: chr5:g.13776771G>T (hg19) ; chr5:g.13776662G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776662G>T , CM000667.2:g.13776662G>T	GRCh38
NC_000005.9:g.13776771G>T , CM000667.1:g.13776771G>T	GRCh37
NC_000005.8:g.13829771G>T	NCBI36
NG_013081.1:g.172819C>A
NG_013081.2:g.172819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9150C>A MANE Select	ENSP00000265104.4:p.Ser3050Arg
ENST00000681290.1:c.9105C>A	ENSP00000505288.1:p.Ser3035Arg
ENST00000265104.4:c.9150C>A	ENSP00000265104.4:p.Ser3050Arg
NM_001369.2:c.9150C>A	NP_001360.1:p.Ser3050Arg
XM_005248262.2:c.9105C>A	XP_005248319.1:p.Ser3035Arg
XM_011513990.1:c.*37C>A	XP_011512292.1:n.*37C>A
XR_925598.1:n.9221C>A
XM_005248262.3:c.9258C>A	XP_005248319.2:p.Ser3086Arg
XM_017009177.1:c.9258C>A	XP_016864666.1:p.Ser3086Arg
XM_017009178.1:c.8163C>A	XP_016864667.1:p.Ser2721Arg
XM_017009179.2:c.8163C>A	XP_016864668.1:p.Ser2721Arg
XM_017009180.1:c.9258C>A	XP_016864669.1:p.Ser3086Arg
XM_017009181.1:c.9258C>A	XP_016864670.1:p.Ser3086Arg
XM_017009182.1:c.9258C>A	XP_016864671.1:p.Ser3086Arg
XM_017009183.1:c.9258C>A	XP_016864672.1:p.Ser3086Arg
XM_017009184.1:c.*37C>A	XP_016864673.1:n.*37C>A
XM_017009185.1:c.4347C>A	XP_016864674.1:p.Ser1449Arg
XM_017009186.1:c.3900C>A	XP_016864675.1:p.Ser1300Arg
XM_017009188.1:c.3237C>A	XP_016864677.1:p.Ser1079Arg
XM_024454388.1:c.8163C>A	XP_024310156.1:p.Ser2721Arg
XM_024454389.1:c.7752C>A	XP_024310157.1:p.Ser2584Arg
XR_001742034.1:n.9144C>A
XR_001742035.1:n.9139C>A
NM_001369.3:c.9150C>A MANE Select	NP_001360.1:p.Ser3050Arg