Canonical Allele Identifier: CA359188551

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692022-C-A
• MyVariant Identifiers: chr5:g.13692131C>A (hg19) ; chr5:g.13692022C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692022C>A , CM000667.2:g.13692022C>A	GRCh38
NC_000005.9:g.13692131C>A , CM000667.1:g.13692131C>A	GRCh37
NC_000005.8:g.13745131C>A	NCBI36
NG_013081.1:g.257459G>T
NG_013081.2:g.257459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1170G>T
ENST00000265104.5:c.13837G>T MANE Select	ENSP00000265104.4:p.Val4613Leu
ENST00000681290.1:c.13792G>T	ENSP00000505288.1:p.Val4598Leu
ENST00000265104.4:c.13837G>T	ENSP00000265104.4:p.Val4613Leu
NM_001369.2:c.13837G>T	NP_001360.1:p.Val4613Leu
XM_005248262.2:c.13792G>T	XP_005248319.1:p.Val4598Leu
XM_005248262.3:c.13945G>T	XP_005248319.2:p.Val4649Leu
XM_017009177.1:c.13525G>T	XP_016864666.1:p.Val4509Leu
XM_017009178.1:c.12850G>T	XP_016864667.1:p.Val4284Leu
XM_017009179.2:c.12850G>T	XP_016864668.1:p.Val4284Leu
XM_017009185.1:c.9034G>T	XP_016864674.1:p.Val3012Leu
XM_017009186.1:c.8587G>T	XP_016864675.1:p.Val2863Leu
XM_017009188.1:c.7924G>T	XP_016864677.1:p.Val2642Leu
XM_024454388.1:c.12850G>T	XP_024310156.1:p.Val4284Leu
XM_024454389.1:c.12439G>T	XP_024310157.1:p.Val4147Leu
NM_001369.3:c.13837G>T MANE Select	NP_001360.1:p.Val4613Leu