Canonical Allele Identifier: CA359189873

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750329962
• gnomAD v4: 5-13752178-T-C
• MyVariant Identifiers: chr5:g.13752287T>C (hg19) ; chr5:g.13752178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752178T>C , CM000667.2:g.13752178T>C	GRCh38
NC_000005.9:g.13752287T>C , CM000667.1:g.13752287T>C	GRCh37
NC_000005.8:g.13805287T>C	NCBI36
NG_013081.1:g.197303A>G
NG_013081.2:g.197303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10984A>G MANE Select	ENSP00000265104.4:p.Asn3662Asp
ENST00000681290.1:c.10939A>G	ENSP00000505288.1:p.Asn3647Asp
ENST00000265104.4:c.10984A>G	ENSP00000265104.4:p.Asn3662Asp
NM_001369.2:c.10984A>G	NP_001360.1:p.Asn3662Asp
XM_005248262.2:c.10939A>G	XP_005248319.1:p.Asn3647Asp
XM_005248262.3:c.11092A>G	XP_005248319.2:p.Asn3698Asp
XM_017009177.1:c.11092A>G	XP_016864666.1:p.Asn3698Asp
XM_017009178.1:c.9997A>G	XP_016864667.1:p.Asn3333Asp
XM_017009179.2:c.9997A>G	XP_016864668.1:p.Asn3333Asp
XM_017009180.1:c.11092A>G	XP_016864669.1:p.Asn3698Asp
XM_017009181.1:c.11092A>G	XP_016864670.1:p.Asn3698Asp
XM_017009182.1:c.11092A>G	XP_016864671.1:p.Asn3698Asp
XM_017009185.1:c.6181A>G	XP_016864674.1:p.Asn2061Asp
XM_017009186.1:c.5734A>G	XP_016864675.1:p.Asn1912Asp
XM_017009188.1:c.5071A>G	XP_016864677.1:p.Asn1691Asp
XM_024454388.1:c.9997A>G	XP_024310156.1:p.Asn3333Asp
XM_024454389.1:c.9586A>G	XP_024310157.1:p.Asn3196Asp
NM_001369.3:c.10984A>G MANE Select	NP_001360.1:p.Asn3662Asp