Canonical Allele Identifier: CA359209772

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776690-G-T
• MyVariant Identifiers: chr5:g.13776799G>T (hg19) ; chr5:g.13776690G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776690G>T , CM000667.2:g.13776690G>T	GRCh38
NC_000005.9:g.13776799G>T , CM000667.1:g.13776799G>T	GRCh37
NC_000005.8:g.13829799G>T	NCBI36
NG_013081.1:g.172791C>A
NG_013081.2:g.172791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9122C>A MANE Select	ENSP00000265104.4:p.Ala3041Asp
ENST00000681290.1:c.9077C>A	ENSP00000505288.1:p.Ala3026Asp
ENST00000265104.4:c.9122C>A	ENSP00000265104.4:p.Ala3041Asp
NM_001369.2:c.9122C>A	NP_001360.1:p.Ala3041Asp
XM_005248262.2:c.9077C>A	XP_005248319.1:p.Ala3026Asp
XM_011513990.1:c.*9C>A	XP_011512292.1:n.*9C>A
XR_925598.1:n.9193C>A
XM_005248262.3:c.9230C>A	XP_005248319.2:p.Ala3077Asp
XM_017009177.1:c.9230C>A	XP_016864666.1:p.Ala3077Asp
XM_017009178.1:c.8135C>A	XP_016864667.1:p.Ala2712Asp
XM_017009179.2:c.8135C>A	XP_016864668.1:p.Ala2712Asp
XM_017009180.1:c.9230C>A	XP_016864669.1:p.Ala3077Asp
XM_017009181.1:c.9230C>A	XP_016864670.1:p.Ala3077Asp
XM_017009182.1:c.9230C>A	XP_016864671.1:p.Ala3077Asp
XM_017009183.1:c.9230C>A	XP_016864672.1:p.Ala3077Asp
XM_017009184.1:c.*9C>A	XP_016864673.1:n.*9C>A
XM_017009185.1:c.4319C>A	XP_016864674.1:p.Ala1440Asp
XM_017009186.1:c.3872C>A	XP_016864675.1:p.Ala1291Asp
XM_017009188.1:c.3209C>A	XP_016864677.1:p.Ala1070Asp
XM_024454388.1:c.8135C>A	XP_024310156.1:p.Ala2712Asp
XM_024454389.1:c.7724C>A	XP_024310157.1:p.Ala2575Asp
XR_001742034.1:n.9116C>A
XR_001742035.1:n.9111C>A
NM_001369.3:c.9122C>A MANE Select	NP_001360.1:p.Ala3041Asp