Canonical Allele Identifier: CA1073389352

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1639734
• ClinVar RCV Id: RCV002138120
• dbSNP Id: rs1740776209
• gnomAD v3: 5-13692139-C-CA
• gnomAD v4: 5-13692139-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692145dup , CM000667.2:g.13692145dup	GRCh38
NC_000005.9:g.13692254dup , CM000667.1:g.13692254dup	GRCh37
NC_000005.8:g.13745254dup	NCBI36
NG_013081.1:g.257341dup
NG_013081.2:g.257341dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1057-5dup
ENST00000265104.5:c.13724-5dup MANE Select	ENSP00000265104.4:n.13724-5dup
ENST00000681290.1:c.13679-5dup	ENSP00000505288.1:n.13679-5dup
ENST00000265104.4:c.13724-5dup	ENSP00000265104.4:n.13724-5dup
NM_001369.2:c.13724-5dup	NP_001360.1:n.13724-5dup
XM_005248262.2:c.13679-5dup	XP_005248319.1:n.13679-5dup
XM_005248262.3:c.13832-5dup	XP_005248319.2:n.13832-5dup
XM_017009177.1:c.13412-5dup	XP_016864666.1:n.13412-5dup
XM_017009178.1:c.12737-5dup	XP_016864667.1:n.12737-5dup
XM_017009179.2:c.12737-5dup	XP_016864668.1:n.12737-5dup
XM_017009185.1:c.8921-5dup	XP_016864674.1:n.8921-5dup
XM_017009186.1:c.8474-5dup	XP_016864675.1:n.8474-5dup
XM_017009188.1:c.7811-5dup	XP_016864677.1:n.7811-5dup
XM_024454388.1:c.12737-5dup	XP_024310156.1:n.12737-5dup
XM_024454389.1:c.12326-5dup	XP_024310157.1:n.12326-5dup
NM_001369.3:c.13724-5dup MANE Select	NP_001360.1:n.13724-5dup