Canonical Allele Identifier: CA359205711

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13901420-C-A
• MyVariant Identifiers: chr5:g.13901529C>A (hg19) ; chr5:g.13901420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901420C>A , CM000667.2:g.13901420C>A	GRCh38
NC_000005.9:g.13901529C>A , CM000667.1:g.13901529C>A	GRCh37
NC_000005.8:g.13954529C>A	NCBI36
NG_013081.1:g.48061G>T
NG_013081.2:g.48061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1884G>T MANE Select	ENSP00000265104.4:p.Leu628Phe
ENST00000681290.1:c.1839G>T	ENSP00000505288.1:p.Leu613Phe
ENST00000265104.4:c.1884G>T	ENSP00000265104.4:p.Leu628Phe
NM_001369.2:c.1884G>T	NP_001360.1:p.Leu628Phe
XM_005248262.2:c.1839G>T	XP_005248319.1:p.Leu613Phe
XM_011513990.1:c.1884G>T	XP_011512292.1:p.Leu628Phe
XR_925598.1:n.2091G>T
XM_005248262.3:c.1992G>T	XP_005248319.2:p.Leu664Phe
XM_017009177.1:c.1992G>T	XP_016864666.1:p.Leu664Phe
XM_017009178.1:c.897G>T	XP_016864667.1:p.Leu299Phe
XM_017009179.2:c.897G>T	XP_016864668.1:p.Leu299Phe
XM_017009180.1:c.1992G>T	XP_016864669.1:p.Leu664Phe
XM_017009181.1:c.1992G>T	XP_016864670.1:p.Leu664Phe
XM_017009182.1:c.1992G>T	XP_016864671.1:p.Leu664Phe
XM_017009183.1:c.1992G>T	XP_016864672.1:p.Leu664Phe
XM_017009184.1:c.1992G>T	XP_016864673.1:p.Leu664Phe
XM_017009187.1:c.1992G>T	XP_016864676.1:p.Leu664Phe
XM_024454388.1:c.897G>T	XP_024310156.1:p.Leu299Phe
XM_024454389.1:c.486G>T	XP_024310157.1:p.Leu162Phe
XR_001742034.1:n.2009G>T
XR_001742035.1:n.2009G>T
NM_001369.3:c.1884G>T MANE Select	NP_001360.1:p.Leu628Phe