Canonical Allele Identifier: CA2673269726

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769152-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769152G>A , CM000667.2:g.13769152G>A	GRCh38
NC_000005.9:g.13769261G>A , CM000667.1:g.13769261G>A	GRCh37
NC_000005.8:g.13822261G>A	NCBI36
NG_013081.1:g.180329C>T
NG_013081.2:g.180329C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9721-16C>T MANE Select	ENSP00000265104.4:n.9721-16C>T
ENST00000681290.1:c.9676-16C>T	ENSP00000505288.1:n.9676-16C>T
ENST00000265104.4:c.9721-16C>T	ENSP00000265104.4:n.9721-16C>T
ENST00000504001.3:n.433-16C>T
NM_001369.2:c.9721-16C>T	NP_001360.1:n.9721-16C>T
XM_005248262.2:c.9676-16C>T	XP_005248319.1:n.9676-16C>T
XM_005248262.3:c.9829-16C>T	XP_005248319.2:n.9829-16C>T
XM_017009177.1:c.9829-16C>T	XP_016864666.1:n.9829-16C>T
XM_017009178.1:c.8734-16C>T	XP_016864667.1:n.8734-16C>T
XM_017009179.2:c.8734-16C>T	XP_016864668.1:n.8734-16C>T
XM_017009180.1:c.9829-16C>T	XP_016864669.1:n.9829-16C>T
XM_017009181.1:c.9829-16C>T	XP_016864670.1:n.9829-16C>T
XM_017009182.1:c.9829-16C>T	XP_016864671.1:n.9829-16C>T
XM_017009185.1:c.4918-16C>T	XP_016864674.1:n.4918-16C>T
XM_017009186.1:c.4471-16C>T	XP_016864675.1:n.4471-16C>T
XM_017009188.1:c.3808-16C>T	XP_016864677.1:n.3808-16C>T
XM_024454388.1:c.8734-16C>T	XP_024310156.1:n.8734-16C>T
XM_024454389.1:c.8323-16C>T	XP_024310157.1:n.8323-16C>T
NM_001369.3:c.9721-16C>T MANE Select	NP_001360.1:n.9721-16C>T