Canonical Allele Identifier: CA359200103

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13829714C>T (hg19) ; chr5:g.13829605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829605C>T , CM000667.2:g.13829605C>T	GRCh38
NC_000005.9:g.13829714C>T , CM000667.1:g.13829714C>T	GRCh37
NC_000005.8:g.13882714C>T	NCBI36
NG_013081.1:g.119876G>A
NG_013081.2:g.119876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1280G>A
ENST00000265104.5:c.6349G>A MANE Select	ENSP00000265104.4:p.Val2117Met
ENST00000681290.1:c.6304G>A	ENSP00000505288.1:p.Val2102Met
ENST00000265104.4:c.6349G>A	ENSP00000265104.4:p.Val2117Met
NM_001369.2:c.6349G>A	NP_001360.1:p.Val2117Met
XM_005248262.2:c.6304G>A	XP_005248319.1:p.Val2102Met
XM_011513990.1:c.6349G>A	XP_011512292.1:p.Val2117Met
XR_925598.1:n.6556G>A
XM_005248262.3:c.6457G>A	XP_005248319.2:p.Val2153Met
XM_017009177.1:c.6457G>A	XP_016864666.1:p.Val2153Met
XM_017009178.1:c.5362G>A	XP_016864667.1:p.Val1788Met
XM_017009179.2:c.5362G>A	XP_016864668.1:p.Val1788Met
XM_017009180.1:c.6457G>A	XP_016864669.1:p.Val2153Met
XM_017009181.1:c.6457G>A	XP_016864670.1:p.Val2153Met
XM_017009182.1:c.6457G>A	XP_016864671.1:p.Val2153Met
XM_017009183.1:c.6457G>A	XP_016864672.1:p.Val2153Met
XM_017009184.1:c.6457G>A	XP_016864673.1:p.Val2153Met
XM_017009185.1:c.1546G>A	XP_016864674.1:p.Val516Met
XM_017009186.1:c.1099G>A	XP_016864675.1:p.Val367Met
XM_017009187.1:c.6457G>A	XP_016864676.1:p.Val2153Met
XM_017009188.1:c.436G>A	XP_016864677.1:p.Val146Met
XM_024454388.1:c.5362G>A	XP_024310156.1:p.Val1788Met
XM_024454389.1:c.4951G>A	XP_024310157.1:p.Val1651Met
XR_001742034.1:n.6474G>A
XR_001742035.1:n.6474G>A
NM_001369.3:c.6349G>A MANE Select	NP_001360.1:p.Val2117Met