Canonical Allele Identifier: CA359209079

Gene: DNAH5

Linked Data

• dbSNP Id: rs778518716
• gnomAD v2: 5-13776705-G-T
• gnomAD v4: 5-13776596-G-T
• MyVariant Identifiers: chr5:g.13776705G>T (hg19) ; chr5:g.13776596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776596G>T , CM000667.2:g.13776596G>T	GRCh38
NC_000005.9:g.13776705G>T , CM000667.1:g.13776705G>T	GRCh37
NC_000005.8:g.13829705G>T	NCBI36
NG_013081.1:g.172885C>A
NG_013081.2:g.172885C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9216C>A MANE Select	ENSP00000265104.4:p.Asp3072Glu
ENST00000681290.1:c.9171C>A	ENSP00000505288.1:p.Asp3057Glu
ENST00000265104.4:c.9216C>A	ENSP00000265104.4:p.Asp3072Glu
NM_001369.2:c.9216C>A	NP_001360.1:p.Asp3072Glu
XM_005248262.2:c.9171C>A	XP_005248319.1:p.Asp3057Glu
XM_005248262.3:c.9324C>A	XP_005248319.2:p.Asp3108Glu
XM_017009177.1:c.9324C>A	XP_016864666.1:p.Asp3108Glu
XM_017009178.1:c.8229C>A	XP_016864667.1:p.Asp2743Glu
XM_017009179.2:c.8229C>A	XP_016864668.1:p.Asp2743Glu
XM_017009180.1:c.9324C>A	XP_016864669.1:p.Asp3108Glu
XM_017009181.1:c.9324C>A	XP_016864670.1:p.Asp3108Glu
XM_017009182.1:c.9324C>A	XP_016864671.1:p.Asp3108Glu
XM_017009183.1:c.9324C>A	XP_016864672.1:p.Asp3108Glu
XM_017009185.1:c.4413C>A	XP_016864674.1:p.Asp1471Glu
XM_017009186.1:c.3966C>A	XP_016864675.1:p.Asp1322Glu
XM_017009188.1:c.3303C>A	XP_016864677.1:p.Asp1101Glu
XM_024454388.1:c.8229C>A	XP_024310156.1:p.Asp2743Glu
XM_024454389.1:c.7818C>A	XP_024310157.1:p.Asp2606Glu
NM_001369.3:c.9216C>A MANE Select	NP_001360.1:p.Asp3072Glu