Canonical Allele Identifier: CA359192326

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753544-C-T
• MyVariant Identifiers: chr5:g.13753653C>T (hg19) ; chr5:g.13753544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753544C>T , CM000667.2:g.13753544C>T	GRCh38
NC_000005.9:g.13753653C>T , CM000667.1:g.13753653C>T	GRCh37
NC_000005.8:g.13806653C>T	NCBI36
NG_013081.1:g.195937G>A
NG_013081.2:g.195937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10561G>A MANE Select	ENSP00000265104.4:p.Val3521Ile
ENST00000681290.1:c.10516G>A	ENSP00000505288.1:p.Val3506Ile
ENST00000265104.4:c.10561G>A	ENSP00000265104.4:p.Val3521Ile
NM_001369.2:c.10561G>A	NP_001360.1:p.Val3521Ile
XM_005248262.2:c.10516G>A	XP_005248319.1:p.Val3506Ile
XM_005248262.3:c.10669G>A	XP_005248319.2:p.Val3557Ile
XM_017009177.1:c.10669G>A	XP_016864666.1:p.Val3557Ile
XM_017009178.1:c.9574G>A	XP_016864667.1:p.Val3192Ile
XM_017009179.2:c.9574G>A	XP_016864668.1:p.Val3192Ile
XM_017009180.1:c.10669G>A	XP_016864669.1:p.Val3557Ile
XM_017009181.1:c.10669G>A	XP_016864670.1:p.Val3557Ile
XM_017009182.1:c.10669G>A	XP_016864671.1:p.Val3557Ile
XM_017009185.1:c.5758G>A	XP_016864674.1:p.Val1920Ile
XM_017009186.1:c.5311G>A	XP_016864675.1:p.Val1771Ile
XM_017009188.1:c.4648G>A	XP_016864677.1:p.Val1550Ile
XM_024454388.1:c.9574G>A	XP_024310156.1:p.Val3192Ile
XM_024454389.1:c.9163G>A	XP_024310157.1:p.Val3055Ile
NM_001369.3:c.10561G>A MANE Select	NP_001360.1:p.Val3521Ile