Canonical Allele Identifier: CA359201925

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769049-C-T
• MyVariant Identifiers: chr5:g.13769158C>T (hg19) ; chr5:g.13769049C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769049C>T , CM000667.2:g.13769049C>T	GRCh38
NC_000005.9:g.13769158C>T , CM000667.1:g.13769158C>T	GRCh37
NC_000005.8:g.13822158C>T	NCBI36
NG_013081.1:g.180432G>A
NG_013081.2:g.180432G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9808G>A MANE Select	ENSP00000265104.4:p.Val3270Met
ENST00000681290.1:c.9763G>A	ENSP00000505288.1:p.Val3255Met
ENST00000265104.4:c.9808G>A	ENSP00000265104.4:p.Val3270Met
ENST00000504001.3:n.520G>A
NM_001369.2:c.9808G>A	NP_001360.1:p.Val3270Met
XM_005248262.2:c.9763G>A	XP_005248319.1:p.Val3255Met
XM_005248262.3:c.9916G>A	XP_005248319.2:p.Val3306Met
XM_017009177.1:c.9916G>A	XP_016864666.1:p.Val3306Met
XM_017009178.1:c.8821G>A	XP_016864667.1:p.Val2941Met
XM_017009179.2:c.8821G>A	XP_016864668.1:p.Val2941Met
XM_017009180.1:c.9916G>A	XP_016864669.1:p.Val3306Met
XM_017009181.1:c.9916G>A	XP_016864670.1:p.Val3306Met
XM_017009182.1:c.9916G>A	XP_016864671.1:p.Val3306Met
XM_017009185.1:c.5005G>A	XP_016864674.1:p.Val1669Met
XM_017009186.1:c.4558G>A	XP_016864675.1:p.Val1520Met
XM_017009188.1:c.3895G>A	XP_016864677.1:p.Val1299Met
XM_024454388.1:c.8821G>A	XP_024310156.1:p.Val2941Met
XM_024454389.1:c.8410G>A	XP_024310157.1:p.Val2804Met
NM_001369.3:c.9808G>A MANE Select	NP_001360.1:p.Val3270Met