Canonical Allele Identifier: CA359212267

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841841-C-T
• MyVariant Identifiers: chr5:g.13841950C>T (hg19) ; chr5:g.13841841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841841C>T , CM000667.2:g.13841841C>T	GRCh38
NC_000005.9:g.13841950C>T , CM000667.1:g.13841950C>T	GRCh37
NC_000005.8:g.13894950C>T	NCBI36
NG_013081.1:g.107640G>A
NG_013081.2:g.107640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5335G>A MANE Select	ENSP00000265104.4:p.Val1779Ile
ENST00000681290.1:c.5290G>A	ENSP00000505288.1:p.Val1764Ile
ENST00000265104.4:c.5335G>A	ENSP00000265104.4:p.Val1779Ile
NM_001369.2:c.5335G>A	NP_001360.1:p.Val1779Ile
XM_005248262.2:c.5290G>A	XP_005248319.1:p.Val1764Ile
XM_011513990.1:c.5335G>A	XP_011512292.1:p.Val1779Ile
XR_925598.1:n.5542G>A
XM_005248262.3:c.5443G>A	XP_005248319.2:p.Val1815Ile
XM_017009177.1:c.5443G>A	XP_016864666.1:p.Val1815Ile
XM_017009178.1:c.4348G>A	XP_016864667.1:p.Val1450Ile
XM_017009179.2:c.4348G>A	XP_016864668.1:p.Val1450Ile
XM_017009180.1:c.5443G>A	XP_016864669.1:p.Val1815Ile
XM_017009181.1:c.5443G>A	XP_016864670.1:p.Val1815Ile
XM_017009182.1:c.5443G>A	XP_016864671.1:p.Val1815Ile
XM_017009183.1:c.5443G>A	XP_016864672.1:p.Val1815Ile
XM_017009184.1:c.5443G>A	XP_016864673.1:p.Val1815Ile
XM_017009185.1:c.532G>A	XP_016864674.1:p.Val178Ile
XM_017009186.1:c.85G>A	XP_016864675.1:p.Val29Ile
XM_017009187.1:c.5443G>A	XP_016864676.1:p.Val1815Ile
XM_024454388.1:c.4348G>A	XP_024310156.1:p.Val1450Ile
XM_024454389.1:c.3937G>A	XP_024310157.1:p.Val1313Ile
XR_001742034.1:n.5460G>A
XR_001742035.1:n.5460G>A
NM_001369.3:c.5335G>A MANE Select	NP_001360.1:p.Val1779Ile