Canonical Allele Identifier: CA359207816

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776450-G-A
• MyVariant Identifiers: chr5:g.13776559G>A (hg19) ; chr5:g.13776450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776450G>A , CM000667.2:g.13776450G>A	GRCh38
NC_000005.9:g.13776559G>A , CM000667.1:g.13776559G>A	GRCh37
NC_000005.8:g.13829559G>A	NCBI36
NG_013081.1:g.173031C>T
NG_013081.2:g.173031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9362C>T MANE Select	ENSP00000265104.4:p.Ala3121Val
ENST00000681290.1:c.9317C>T	ENSP00000505288.1:p.Ala3106Val
ENST00000265104.4:c.9362C>T	ENSP00000265104.4:p.Ala3121Val
NM_001369.2:c.9362C>T	NP_001360.1:p.Ala3121Val
XM_005248262.2:c.9317C>T	XP_005248319.1:p.Ala3106Val
XM_005248262.3:c.9470C>T	XP_005248319.2:p.Ala3157Val
XM_017009177.1:c.9470C>T	XP_016864666.1:p.Ala3157Val
XM_017009178.1:c.8375C>T	XP_016864667.1:p.Ala2792Val
XM_017009179.2:c.8375C>T	XP_016864668.1:p.Ala2792Val
XM_017009180.1:c.9470C>T	XP_016864669.1:p.Ala3157Val
XM_017009181.1:c.9470C>T	XP_016864670.1:p.Ala3157Val
XM_017009182.1:c.9470C>T	XP_016864671.1:p.Ala3157Val
XM_017009183.1:c.9470C>T	XP_016864672.1:p.Ala3157Val
XM_017009185.1:c.4559C>T	XP_016864674.1:p.Ala1520Val
XM_017009186.1:c.4112C>T	XP_016864675.1:p.Ala1371Val
XM_017009188.1:c.3449C>T	XP_016864677.1:p.Ala1150Val
XM_024454388.1:c.8375C>T	XP_024310156.1:p.Ala2792Val
XM_024454389.1:c.7964C>T	XP_024310157.1:p.Ala2655Val
NM_001369.3:c.9362C>T MANE Select	NP_001360.1:p.Ala3121Val