Canonical Allele Identifier: CA359232451

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13871104C>A (hg19) ; chr5:g.13870995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870995C>A , CM000667.2:g.13870995C>A	GRCh38
NC_000005.9:g.13871104C>A , CM000667.1:g.13871104C>A	GRCh37
NC_000005.8:g.13924104C>A	NCBI36
NG_013081.1:g.78486G>T
NG_013081.2:g.78486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3606G>T MANE Select	ENSP00000265104.4:p.Leu1202Phe
ENST00000681290.1:c.3561G>T	ENSP00000505288.1:p.Leu1187Phe
ENST00000265104.4:c.3606G>T	ENSP00000265104.4:p.Leu1202Phe
NM_001369.2:c.3606G>T	NP_001360.1:p.Leu1202Phe
XM_005248262.2:c.3561G>T	XP_005248319.1:p.Leu1187Phe
XM_011513990.1:c.3606G>T	XP_011512292.1:p.Leu1202Phe
XR_925598.1:n.3813G>T
XM_005248262.3:c.3714G>T	XP_005248319.2:p.Leu1238Phe
XM_017009177.1:c.3714G>T	XP_016864666.1:p.Leu1238Phe
XM_017009178.1:c.2619G>T	XP_016864667.1:p.Leu873Phe
XM_017009179.2:c.2619G>T	XP_016864668.1:p.Leu873Phe
XM_017009180.1:c.3714G>T	XP_016864669.1:p.Leu1238Phe
XM_017009181.1:c.3714G>T	XP_016864670.1:p.Leu1238Phe
XM_017009182.1:c.3714G>T	XP_016864671.1:p.Leu1238Phe
XM_017009183.1:c.3714G>T	XP_016864672.1:p.Leu1238Phe
XM_017009184.1:c.3714G>T	XP_016864673.1:p.Leu1238Phe
XM_017009187.1:c.3714G>T	XP_016864676.1:p.Leu1238Phe
XM_024454388.1:c.2619G>T	XP_024310156.1:p.Leu873Phe
XM_024454389.1:c.2208G>T	XP_024310157.1:p.Leu736Phe
XR_001742034.1:n.3731G>T
XR_001742035.1:n.3731G>T
NM_001369.3:c.3606G>T MANE Select	NP_001360.1:p.Leu1202Phe