Canonical Allele Identifier: CA2673269862

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769353-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769353T>C , CM000667.2:g.13769353T>C	GRCh38
NC_000005.9:g.13769462T>C , CM000667.1:g.13769462T>C	GRCh37
NC_000005.8:g.13822462T>C	NCBI36
NG_013081.1:g.180128A>G
NG_013081.2:g.180128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9720+148A>G MANE Select	ENSP00000265104.4:n.9720+148A>G
ENST00000681290.1:c.9675+148A>G	ENSP00000505288.1:n.9675+148A>G
ENST00000265104.4:c.9720+148A>G	ENSP00000265104.4:n.9720+148A>G
ENST00000504001.3:n.432+148A>G
NM_001369.2:c.9720+148A>G	NP_001360.1:n.9720+148A>G
XM_005248262.2:c.9675+148A>G	XP_005248319.1:n.9675+148A>G
XM_005248262.3:c.9828+148A>G	XP_005248319.2:n.9828+148A>G
XM_017009177.1:c.9828+148A>G	XP_016864666.1:n.9828+148A>G
XM_017009178.1:c.8733+148A>G	XP_016864667.1:n.8733+148A>G
XM_017009179.2:c.8733+148A>G	XP_016864668.1:n.8733+148A>G
XM_017009180.1:c.9828+148A>G	XP_016864669.1:n.9828+148A>G
XM_017009181.1:c.9828+148A>G	XP_016864670.1:n.9828+148A>G
XM_017009182.1:c.9828+148A>G	XP_016864671.1:n.9828+148A>G
XM_017009185.1:c.4917+148A>G	XP_016864674.1:n.4917+148A>G
XM_017009186.1:c.4470+148A>G	XP_016864675.1:n.4470+148A>G
XM_017009188.1:c.3807+148A>G	XP_016864677.1:n.3807+148A>G
XM_024454388.1:c.8733+148A>G	XP_024310156.1:n.8733+148A>G
XM_024454389.1:c.8322+148A>G	XP_024310157.1:n.8322+148A>G
NM_001369.3:c.9720+148A>G MANE Select	NP_001360.1:n.9720+148A>G