Canonical Allele Identifier: CA359209876

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776706-C-A
• MyVariant Identifiers: chr5:g.13776815C>A (hg19) ; chr5:g.13776706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776706C>A , CM000667.2:g.13776706C>A	GRCh38
NC_000005.9:g.13776815C>A , CM000667.1:g.13776815C>A	GRCh37
NC_000005.8:g.13829815C>A	NCBI36
NG_013081.1:g.172775G>T
NG_013081.2:g.172775G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9106G>T MANE Select	ENSP00000265104.4:p.Val3036Phe
ENST00000681290.1:c.9061G>T	ENSP00000505288.1:p.Val3021Phe
ENST00000265104.4:c.9106G>T	ENSP00000265104.4:p.Val3036Phe
NM_001369.2:c.9106G>T	NP_001360.1:p.Val3036Phe
XM_005248262.2:c.9061G>T	XP_005248319.1:p.Val3021Phe
XM_011513990.1:c.9101G>T	XP_011512292.1:p.Gly3034Val
XR_925598.1:n.9177G>T
XM_005248262.3:c.9214G>T	XP_005248319.2:p.Val3072Phe
XM_017009177.1:c.9214G>T	XP_016864666.1:p.Val3072Phe
XM_017009178.1:c.8119G>T	XP_016864667.1:p.Val2707Phe
XM_017009179.2:c.8119G>T	XP_016864668.1:p.Val2707Phe
XM_017009180.1:c.9214G>T	XP_016864669.1:p.Val3072Phe
XM_017009181.1:c.9214G>T	XP_016864670.1:p.Val3072Phe
XM_017009182.1:c.9214G>T	XP_016864671.1:p.Val3072Phe
XM_017009183.1:c.9214G>T	XP_016864672.1:p.Val3072Phe
XM_017009184.1:c.9209G>T	XP_016864673.1:p.Gly3070Val
XM_017009185.1:c.4303G>T	XP_016864674.1:p.Val1435Phe
XM_017009186.1:c.3856G>T	XP_016864675.1:p.Val1286Phe
XM_017009188.1:c.3193G>T	XP_016864677.1:p.Val1065Phe
XM_024454388.1:c.8119G>T	XP_024310156.1:p.Val2707Phe
XM_024454389.1:c.7708G>T	XP_024310157.1:p.Val2570Phe
XR_001742034.1:n.9100G>T
XR_001742035.1:n.9095G>T
NM_001369.3:c.9106G>T MANE Select	NP_001360.1:p.Val3036Phe