Canonical Allele Identifier: CA359188513

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692109A>T (hg19) ; chr5:g.13692000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692000A>T , CM000667.2:g.13692000A>T	GRCh38
NC_000005.9:g.13692109A>T , CM000667.1:g.13692109A>T	GRCh37
NC_000005.8:g.13745109A>T	NCBI36
NG_013081.1:g.257481T>A
NG_013081.2:g.257481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1192T>A
ENST00000265104.5:c.13859T>A MANE Select	ENSP00000265104.4:p.Leu4620Gln
ENST00000681290.1:c.13814T>A	ENSP00000505288.1:p.Leu4605Gln
ENST00000265104.4:c.13859T>A	ENSP00000265104.4:p.Leu4620Gln
NM_001369.2:c.13859T>A	NP_001360.1:p.Leu4620Gln
XM_005248262.2:c.13814T>A	XP_005248319.1:p.Leu4605Gln
XM_005248262.3:c.13967T>A	XP_005248319.2:p.Leu4656Gln
XM_017009177.1:c.13547T>A	XP_016864666.1:p.Leu4516Gln
XM_017009178.1:c.12872T>A	XP_016864667.1:p.Leu4291Gln
XM_017009179.2:c.12872T>A	XP_016864668.1:p.Leu4291Gln
XM_017009185.1:c.9056T>A	XP_016864674.1:p.Leu3019Gln
XM_017009186.1:c.8609T>A	XP_016864675.1:p.Leu2870Gln
XM_017009188.1:c.7946T>A	XP_016864677.1:p.Leu2649Gln
XM_024454388.1:c.12872T>A	XP_024310156.1:p.Leu4291Gln
XM_024454389.1:c.12461T>A	XP_024310157.1:p.Leu4154Gln
NM_001369.3:c.13859T>A MANE Select	NP_001360.1:p.Leu4620Gln