Canonical Allele Identifier: CA2673267442

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13720925-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13720925A>T , CM000667.2:g.13720925A>T	GRCh38
NC_000005.9:g.13721034A>T , CM000667.1:g.13721034A>T	GRCh37
NC_000005.8:g.13774034A>T	NCBI36
NG_013081.1:g.228556T>A
NG_013081.2:g.228556T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12279+75T>A MANE Select	ENSP00000265104.4:n.12279+75T>A
ENST00000681290.1:c.12234+75T>A	ENSP00000505288.1:n.12234+75T>A
ENST00000265104.4:c.12279+75T>A	ENSP00000265104.4:n.12279+75T>A
NM_001369.2:c.12279+75T>A	NP_001360.1:n.12279+75T>A
XM_005248262.2:c.12234+75T>A	XP_005248319.1:n.12234+75T>A
XM_005248262.3:c.12387+75T>A	XP_005248319.2:n.12387+75T>A
XM_017009177.1:c.12387+75T>A	XP_016864666.1:n.12387+75T>A
XM_017009178.1:c.11292+75T>A	XP_016864667.1:n.11292+75T>A
XM_017009179.2:c.11292+75T>A	XP_016864668.1:n.11292+75T>A
XM_017009180.1:c.12387+75T>A	XP_016864669.1:n.12387+75T>A
XM_017009185.1:c.7476+75T>A	XP_016864674.1:n.7476+75T>A
XM_017009186.1:c.7029+75T>A	XP_016864675.1:n.7029+75T>A
XM_017009188.1:c.6366+75T>A	XP_016864677.1:n.6366+75T>A
XM_024454388.1:c.11292+75T>A	XP_024310156.1:n.11292+75T>A
XM_024454389.1:c.10881+75T>A	XP_024310157.1:n.10881+75T>A
NM_001369.3:c.12279+75T>A MANE Select	NP_001360.1:n.12279+75T>A