Canonical Allele Identifier: CA359202210

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769094-C-T
• MyVariant Identifiers: chr5:g.13769203C>T (hg19) ; chr5:g.13769094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769094C>T , CM000667.2:g.13769094C>T	GRCh38
NC_000005.9:g.13769203C>T , CM000667.1:g.13769203C>T	GRCh37
NC_000005.8:g.13822203C>T	NCBI36
NG_013081.1:g.180387G>A
NG_013081.2:g.180387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9763G>A MANE Select	ENSP00000265104.4:p.Val3255Ile
ENST00000681290.1:c.9718G>A	ENSP00000505288.1:p.Val3240Ile
ENST00000265104.4:c.9763G>A	ENSP00000265104.4:p.Val3255Ile
ENST00000504001.3:n.475G>A
NM_001369.2:c.9763G>A	NP_001360.1:p.Val3255Ile
XM_005248262.2:c.9718G>A	XP_005248319.1:p.Val3240Ile
XM_005248262.3:c.9871G>A	XP_005248319.2:p.Val3291Ile
XM_017009177.1:c.9871G>A	XP_016864666.1:p.Val3291Ile
XM_017009178.1:c.8776G>A	XP_016864667.1:p.Val2926Ile
XM_017009179.2:c.8776G>A	XP_016864668.1:p.Val2926Ile
XM_017009180.1:c.9871G>A	XP_016864669.1:p.Val3291Ile
XM_017009181.1:c.9871G>A	XP_016864670.1:p.Val3291Ile
XM_017009182.1:c.9871G>A	XP_016864671.1:p.Val3291Ile
XM_017009185.1:c.4960G>A	XP_016864674.1:p.Val1654Ile
XM_017009186.1:c.4513G>A	XP_016864675.1:p.Val1505Ile
XM_017009188.1:c.3850G>A	XP_016864677.1:p.Val1284Ile
XM_024454388.1:c.8776G>A	XP_024310156.1:p.Val2926Ile
XM_024454389.1:c.8365G>A	XP_024310157.1:p.Val2789Ile
NM_001369.3:c.9763G>A MANE Select	NP_001360.1:p.Val3255Ile