Canonical Allele Identifier: CA359226146

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 3221505
• ClinVar RCV Id: RCV004510831
• gnomAD v4: 5-13866228-T-A
• MyVariant Identifiers: chr5:g.13866337T>A (hg19) ; chr5:g.13866228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866228T>A , CM000667.2:g.13866228T>A	GRCh38
NC_000005.9:g.13866337T>A , CM000667.1:g.13866337T>A	GRCh37
NC_000005.8:g.13919337T>A	NCBI36
NG_013081.1:g.83253A>T
NG_013081.2:g.83253A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4108A>T MANE Select	ENSP00000265104.4:p.Met1370Leu
ENST00000681290.1:c.4063A>T	ENSP00000505288.1:p.Met1355Leu
ENST00000265104.4:c.4108A>T	ENSP00000265104.4:p.Met1370Leu
NM_001369.2:c.4108A>T	NP_001360.1:p.Met1370Leu
XM_005248262.2:c.4063A>T	XP_005248319.1:p.Met1355Leu
XM_011513990.1:c.4108A>T	XP_011512292.1:p.Met1370Leu
XR_925598.1:n.4315A>T
XM_005248262.3:c.4216A>T	XP_005248319.2:p.Met1406Leu
XM_017009177.1:c.4216A>T	XP_016864666.1:p.Met1406Leu
XM_017009178.1:c.3121A>T	XP_016864667.1:p.Met1041Leu
XM_017009179.2:c.3121A>T	XP_016864668.1:p.Met1041Leu
XM_017009180.1:c.4216A>T	XP_016864669.1:p.Met1406Leu
XM_017009181.1:c.4216A>T	XP_016864670.1:p.Met1406Leu
XM_017009182.1:c.4216A>T	XP_016864671.1:p.Met1406Leu
XM_017009183.1:c.4216A>T	XP_016864672.1:p.Met1406Leu
XM_017009184.1:c.4216A>T	XP_016864673.1:p.Met1406Leu
XM_017009187.1:c.4216A>T	XP_016864676.1:p.Met1406Leu
XM_024454388.1:c.3121A>T	XP_024310156.1:p.Met1041Leu
XM_024454389.1:c.2710A>T	XP_024310157.1:p.Met904Leu
XR_001742034.1:n.4233A>T
XR_001742035.1:n.4233A>T
NM_001369.3:c.4108A>T MANE Select	NP_001360.1:p.Met1370Leu