Canonical Allele Identifier: CA359188692

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692091-G-C
• MyVariant Identifiers: chr5:g.13692200G>C (hg19) ; chr5:g.13692091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692091G>C , CM000667.2:g.13692091G>C	GRCh38
NC_000005.9:g.13692200G>C , CM000667.1:g.13692200G>C	GRCh37
NC_000005.8:g.13745200G>C	NCBI36
NG_013081.1:g.257390C>G
NG_013081.2:g.257390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1101C>G
ENST00000265104.5:c.13768C>G MANE Select	ENSP00000265104.4:p.Pro4590Ala
ENST00000681290.1:c.13723C>G	ENSP00000505288.1:p.Pro4575Ala
ENST00000265104.4:c.13768C>G	ENSP00000265104.4:p.Pro4590Ala
NM_001369.2:c.13768C>G	NP_001360.1:p.Pro4590Ala
XM_005248262.2:c.13723C>G	XP_005248319.1:p.Pro4575Ala
XM_005248262.3:c.13876C>G	XP_005248319.2:p.Pro4626Ala
XM_017009177.1:c.13456C>G	XP_016864666.1:p.Pro4486Ala
XM_017009178.1:c.12781C>G	XP_016864667.1:p.Pro4261Ala
XM_017009179.2:c.12781C>G	XP_016864668.1:p.Pro4261Ala
XM_017009185.1:c.8965C>G	XP_016864674.1:p.Pro2989Ala
XM_017009186.1:c.8518C>G	XP_016864675.1:p.Pro2840Ala
XM_017009188.1:c.7855C>G	XP_016864677.1:p.Pro2619Ala
XM_024454388.1:c.12781C>G	XP_024310156.1:p.Pro4261Ala
XM_024454389.1:c.12370C>G	XP_024310157.1:p.Pro4124Ala
NM_001369.3:c.13768C>G MANE Select	NP_001360.1:p.Pro4590Ala