Canonical Allele Identifier: CA359202440

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13830645-T-G
• MyVariant Identifiers: chr5:g.13830754T>G (hg19) ; chr5:g.13830645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830645T>G , CM000667.2:g.13830645T>G	GRCh38
NC_000005.9:g.13830754T>G , CM000667.1:g.13830754T>G	GRCh37
NC_000005.8:g.13883754T>G	NCBI36
NG_013081.1:g.118836A>C
NG_013081.2:g.118836A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.944A>C
ENST00000265104.5:c.6013A>C MANE Select	ENSP00000265104.4:p.Asn2005His
ENST00000681290.1:c.5968A>C	ENSP00000505288.1:p.Asn1990His
ENST00000265104.4:c.6013A>C	ENSP00000265104.4:p.Asn2005His
NM_001369.2:c.6013A>C	NP_001360.1:p.Asn2005His
XM_005248262.2:c.5968A>C	XP_005248319.1:p.Asn1990His
XM_011513990.1:c.6013A>C	XP_011512292.1:p.Asn2005His
XR_925598.1:n.6220A>C
XM_005248262.3:c.6121A>C	XP_005248319.2:p.Asn2041His
XM_017009177.1:c.6121A>C	XP_016864666.1:p.Asn2041His
XM_017009178.1:c.5026A>C	XP_016864667.1:p.Asn1676His
XM_017009179.2:c.5026A>C	XP_016864668.1:p.Asn1676His
XM_017009180.1:c.6121A>C	XP_016864669.1:p.Asn2041His
XM_017009181.1:c.6121A>C	XP_016864670.1:p.Asn2041His
XM_017009182.1:c.6121A>C	XP_016864671.1:p.Asn2041His
XM_017009183.1:c.6121A>C	XP_016864672.1:p.Asn2041His
XM_017009184.1:c.6121A>C	XP_016864673.1:p.Asn2041His
XM_017009185.1:c.1210A>C	XP_016864674.1:p.Asn404His
XM_017009186.1:c.763A>C	XP_016864675.1:p.Asn255His
XM_017009187.1:c.6121A>C	XP_016864676.1:p.Asn2041His
XM_017009188.1:c.100A>C	XP_016864677.1:p.Asn34His
XM_024454388.1:c.5026A>C	XP_024310156.1:p.Asn1676His
XM_024454389.1:c.4615A>C	XP_024310157.1:p.Asn1539His
XR_001742034.1:n.6138A>C
XR_001742035.1:n.6138A>C
NM_001369.3:c.6013A>C MANE Select	NP_001360.1:p.Asn2005His