Canonical Allele Identifier: CA359204379

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770804-C-T
• MyVariant Identifiers: chr5:g.13770913C>T (hg19) ; chr5:g.13770804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770804C>T , CM000667.2:g.13770804C>T	GRCh38
NC_000005.9:g.13770913C>T , CM000667.1:g.13770913C>T	GRCh37
NC_000005.8:g.13823913C>T	NCBI36
NG_013081.1:g.178677G>A
NG_013081.2:g.178677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9550G>A MANE Select	ENSP00000265104.4:p.Gly3184Ser
ENST00000681290.1:c.9505G>A	ENSP00000505288.1:p.Gly3169Ser
ENST00000265104.4:c.9550G>A	ENSP00000265104.4:p.Gly3184Ser
ENST00000504001.3:n.262G>A
NM_001369.2:c.9550G>A	NP_001360.1:p.Gly3184Ser
XM_005248262.2:c.9505G>A	XP_005248319.1:p.Gly3169Ser
XM_005248262.3:c.9658G>A	XP_005248319.2:p.Gly3220Ser
XM_017009177.1:c.9658G>A	XP_016864666.1:p.Gly3220Ser
XM_017009178.1:c.8563G>A	XP_016864667.1:p.Gly2855Ser
XM_017009179.2:c.8563G>A	XP_016864668.1:p.Gly2855Ser
XM_017009180.1:c.9658G>A	XP_016864669.1:p.Gly3220Ser
XM_017009181.1:c.9658G>A	XP_016864670.1:p.Gly3220Ser
XM_017009182.1:c.9658G>A	XP_016864671.1:p.Gly3220Ser
XM_017009183.1:c.9658G>A	XP_016864672.1:p.Gly3220Ser
XM_017009185.1:c.4747G>A	XP_016864674.1:p.Gly1583Ser
XM_017009186.1:c.4300G>A	XP_016864675.1:p.Gly1434Ser
XM_017009188.1:c.3637G>A	XP_016864677.1:p.Gly1213Ser
XM_024454388.1:c.8563G>A	XP_024310156.1:p.Gly2855Ser
XM_024454389.1:c.8152G>A	XP_024310157.1:p.Gly2718Ser
NM_001369.3:c.9550G>A MANE Select	NP_001360.1:p.Gly3184Ser