Canonical Allele Identifier: CA359224974

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735999A>T (hg19) ; chr5:g.13735890A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735890A>T , CM000667.2:g.13735890A>T	GRCh38
NC_000005.9:g.13735999A>T , CM000667.1:g.13735999A>T	GRCh37
NC_000005.8:g.13788999A>T	NCBI36
NG_013081.1:g.213591T>A
NG_013081.2:g.213591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11498T>A MANE Select	ENSP00000265104.4:p.Met3833Lys
ENST00000681290.1:c.11453T>A	ENSP00000505288.1:p.Met3818Lys
ENST00000265104.4:c.11498T>A	ENSP00000265104.4:p.Met3833Lys
NM_001369.2:c.11498T>A	NP_001360.1:p.Met3833Lys
XM_005248262.2:c.11453T>A	XP_005248319.1:p.Met3818Lys
XM_005248262.3:c.11606T>A	XP_005248319.2:p.Met3869Lys
XM_017009177.1:c.11606T>A	XP_016864666.1:p.Met3869Lys
XM_017009178.1:c.10511T>A	XP_016864667.1:p.Met3504Lys
XM_017009179.2:c.10511T>A	XP_016864668.1:p.Met3504Lys
XM_017009180.1:c.11606T>A	XP_016864669.1:p.Met3869Lys
XM_017009181.1:c.11606T>A	XP_016864670.1:p.Met3869Lys
XM_017009182.1:c.11362T>A	XP_016864671.1:p.Cys3788Ser
XM_017009185.1:c.6695T>A	XP_016864674.1:p.Met2232Lys
XM_017009186.1:c.6248T>A	XP_016864675.1:p.Met2083Lys
XM_017009188.1:c.5585T>A	XP_016864677.1:p.Met1862Lys
XM_024454388.1:c.10511T>A	XP_024310156.1:p.Met3504Lys
XM_024454389.1:c.10100T>A	XP_024310157.1:p.Met3367Lys
NM_001369.3:c.11498T>A MANE Select	NP_001360.1:p.Met3833Lys