Canonical Allele Identifier: CA1073394336

Gene: DNAH5

Linked Data

• dbSNP Id: rs1754084267
• gnomAD v3: 5-13776358-G-A
• gnomAD v4: 5-13776358-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776358G>A , CM000667.2:g.13776358G>A	GRCh38
NC_000005.9:g.13776467G>A , CM000667.1:g.13776467G>A	GRCh37
NC_000005.8:g.13829467G>A	NCBI36
NG_013081.1:g.173123C>T
NG_013081.2:g.173123C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9373+81C>T MANE Select	ENSP00000265104.4:n.9373+81C>T
ENST00000681290.1:c.9328+81C>T	ENSP00000505288.1:n.9328+81C>T
ENST00000265104.4:c.9373+81C>T	ENSP00000265104.4:n.9373+81C>T
NM_001369.2:c.9373+81C>T	NP_001360.1:n.9373+81C>T
XM_005248262.2:c.9328+81C>T	XP_005248319.1:n.9328+81C>T
XM_005248262.3:c.9481+81C>T	XP_005248319.2:n.9481+81C>T
XM_017009177.1:c.9481+81C>T	XP_016864666.1:n.9481+81C>T
XM_017009178.1:c.8386+81C>T	XP_016864667.1:n.8386+81C>T
XM_017009179.2:c.8386+81C>T	XP_016864668.1:n.8386+81C>T
XM_017009180.1:c.9481+81C>T	XP_016864669.1:n.9481+81C>T
XM_017009181.1:c.9481+81C>T	XP_016864670.1:n.9481+81C>T
XM_017009182.1:c.9481+81C>T	XP_016864671.1:n.9481+81C>T
XM_017009183.1:c.9481+81C>T	XP_016864672.1:n.9481+81C>T
XM_017009185.1:c.4570+81C>T	XP_016864674.1:n.4570+81C>T
XM_017009186.1:c.4123+81C>T	XP_016864675.1:n.4123+81C>T
XM_017009188.1:c.3460+81C>T	XP_016864677.1:n.3460+81C>T
XM_024454388.1:c.8386+81C>T	XP_024310156.1:n.8386+81C>T
XM_024454389.1:c.7975+81C>T	XP_024310157.1:n.7975+81C>T
NM_001369.3:c.9373+81C>T MANE Select	NP_001360.1:n.9373+81C>T