Canonical Allele Identifier: CA359224894

Gene: DNAH5

Linked Data

• dbSNP Id: rs750300999
• MyVariant Identifiers: chr5:g.13735988T>C (hg19) ; chr5:g.13735879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735879T>C , CM000667.2:g.13735879T>C	GRCh38
NC_000005.9:g.13735988T>C , CM000667.1:g.13735988T>C	GRCh37
NC_000005.8:g.13788988T>C	NCBI36
NG_013081.1:g.213602A>G
NG_013081.2:g.213602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11509A>G MANE Select	ENSP00000265104.4:p.Asn3837Asp
ENST00000681290.1:c.11464A>G	ENSP00000505288.1:p.Asn3822Asp
ENST00000265104.4:c.11509A>G	ENSP00000265104.4:p.Asn3837Asp
NM_001369.2:c.11509A>G	NP_001360.1:p.Asn3837Asp
XM_005248262.2:c.11464A>G	XP_005248319.1:p.Asn3822Asp
XM_005248262.3:c.11617A>G	XP_005248319.2:p.Asn3873Asp
XM_017009177.1:c.11617A>G	XP_016864666.1:p.Asn3873Asp
XM_017009178.1:c.10522A>G	XP_016864667.1:p.Asn3508Asp
XM_017009179.2:c.10522A>G	XP_016864668.1:p.Asn3508Asp
XM_017009180.1:c.11617A>G	XP_016864669.1:p.Asn3873Asp
XM_017009181.1:c.11617A>G	XP_016864670.1:p.Asn3873Asp
XM_017009182.1:c.11373A>G	XP_016864671.1:p.Leu3791=
XM_017009185.1:c.6706A>G	XP_016864674.1:p.Asn2236Asp
XM_017009186.1:c.6259A>G	XP_016864675.1:p.Asn2087Asp
XM_017009188.1:c.5596A>G	XP_016864677.1:p.Asn1866Asp
XM_024454388.1:c.10522A>G	XP_024310156.1:p.Asn3508Asp
XM_024454389.1:c.10111A>G	XP_024310157.1:p.Asn3371Asp
NM_001369.3:c.11509A>G MANE Select	NP_001360.1:p.Asn3837Asp