Canonical Allele Identifier: CA2673266051

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13691851-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691851G>C , CM000667.2:g.13691851G>C	GRCh38
NC_000005.9:g.13691960G>C , CM000667.1:g.13691960G>C	GRCh37
NC_000005.8:g.13744960G>C	NCBI36
NG_013081.1:g.257630C>G
NG_013081.2:g.257630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1341C>G
ENST00000265104.5:c.*133C>G MANE Select	ENSP00000265104.4:n.*133C>G
ENST00000681290.1:c.*133C>G	ENSP00000505288.1:n.*133C>G
ENST00000265104.4:c.*133C>G	ENSP00000265104.4:n.*133C>G
NM_001369.2:c.*133C>G	NP_001360.1:n.*133C>G
XM_005248262.2:c.*133C>G	XP_005248319.1:n.*133C>G
XM_005248262.3:c.*133C>G	XP_005248319.2:n.*133C>G
XM_017009177.1:c.*133C>G	XP_016864666.1:n.*133C>G
XM_017009178.1:c.*133C>G	XP_016864667.1:n.*133C>G
XM_017009179.2:c.*133C>G	XP_016864668.1:n.*133C>G
XM_017009185.1:c.*133C>G	XP_016864674.1:n.*133C>G
XM_017009186.1:c.*133C>G	XP_016864675.1:n.*133C>G
XM_017009188.1:c.*133C>G	XP_016864677.1:n.*133C>G
XM_024454388.1:c.*133C>G	XP_024310156.1:n.*133C>G
XM_024454389.1:c.*133C>G	XP_024310157.1:n.*133C>G
NM_001369.3:c.*133C>G MANE Select	NP_001360.1:n.*133C>G