Canonical Allele Identifier: CA359208375

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717611A>C (hg19) ; chr5:g.13717502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717502A>C , CM000667.2:g.13717502A>C	GRCh38
NC_000005.9:g.13717611A>C , CM000667.1:g.13717611A>C	GRCh37
NC_000005.8:g.13770611A>C	NCBI36
NG_013081.1:g.231979T>G
NG_013081.2:g.231979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12518T>G MANE Select	ENSP00000265104.4:p.Leu4173Arg
ENST00000681290.1:c.12473T>G	ENSP00000505288.1:p.Leu4158Arg
ENST00000265104.4:c.12518T>G	ENSP00000265104.4:p.Leu4173Arg
NM_001369.2:c.12518T>G	NP_001360.1:p.Leu4173Arg
XM_005248262.2:c.12473T>G	XP_005248319.1:p.Leu4158Arg
XM_005248262.3:c.12626T>G	XP_005248319.2:p.Leu4209Arg
XM_017009177.1:c.12626T>G	XP_016864666.1:p.Leu4209Arg
XM_017009178.1:c.11531T>G	XP_016864667.1:p.Leu3844Arg
XM_017009179.2:c.11531T>G	XP_016864668.1:p.Leu3844Arg
XM_017009180.1:c.12626T>G	XP_016864669.1:p.Leu4209Arg
XM_017009185.1:c.7715T>G	XP_016864674.1:p.Leu2572Arg
XM_017009186.1:c.7268T>G	XP_016864675.1:p.Leu2423Arg
XM_017009188.1:c.6605T>G	XP_016864677.1:p.Leu2202Arg
XM_024454388.1:c.11531T>G	XP_024310156.1:p.Leu3844Arg
XM_024454389.1:c.11120T>G	XP_024310157.1:p.Leu3707Arg
NM_001369.3:c.12518T>G MANE Select	NP_001360.1:p.Leu4173Arg