Canonical Allele Identifier: CA359188562

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692026-G-C
• MyVariant Identifiers: chr5:g.13692135G>C (hg19) ; chr5:g.13692026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692026G>C , CM000667.2:g.13692026G>C	GRCh38
NC_000005.9:g.13692135G>C , CM000667.1:g.13692135G>C	GRCh37
NC_000005.8:g.13745135G>C	NCBI36
NG_013081.1:g.257455C>G
NG_013081.2:g.257455C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1166C>G
ENST00000265104.5:c.13833C>G MANE Select	ENSP00000265104.4:p.His4611Gln
ENST00000681290.1:c.13788C>G	ENSP00000505288.1:p.His4596Gln
ENST00000265104.4:c.13833C>G	ENSP00000265104.4:p.His4611Gln
NM_001369.2:c.13833C>G	NP_001360.1:p.His4611Gln
XM_005248262.2:c.13788C>G	XP_005248319.1:p.His4596Gln
XM_005248262.3:c.13941C>G	XP_005248319.2:p.His4647Gln
XM_017009177.1:c.13521C>G	XP_016864666.1:p.His4507Gln
XM_017009178.1:c.12846C>G	XP_016864667.1:p.His4282Gln
XM_017009179.2:c.12846C>G	XP_016864668.1:p.His4282Gln
XM_017009185.1:c.9030C>G	XP_016864674.1:p.His3010Gln
XM_017009186.1:c.8583C>G	XP_016864675.1:p.His2861Gln
XM_017009188.1:c.7920C>G	XP_016864677.1:p.His2640Gln
XM_024454388.1:c.12846C>G	XP_024310156.1:p.His4282Gln
XM_024454389.1:c.12435C>G	XP_024310157.1:p.His4145Gln
NM_001369.3:c.13833C>G MANE Select	NP_001360.1:p.His4611Gln