Canonical Allele Identifier: CA359188545

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692128G>T (hg19) ; chr5:g.13692019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692019G>T , CM000667.2:g.13692019G>T	GRCh38
NC_000005.9:g.13692128G>T , CM000667.1:g.13692128G>T	GRCh37
NC_000005.8:g.13745128G>T	NCBI36
NG_013081.1:g.257462C>A
NG_013081.2:g.257462C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1173C>A
ENST00000265104.5:c.13840C>A MANE Select	ENSP00000265104.4:p.Leu4614Ile
ENST00000681290.1:c.13795C>A	ENSP00000505288.1:p.Leu4599Ile
ENST00000265104.4:c.13840C>A	ENSP00000265104.4:p.Leu4614Ile
NM_001369.2:c.13840C>A	NP_001360.1:p.Leu4614Ile
XM_005248262.2:c.13795C>A	XP_005248319.1:p.Leu4599Ile
XM_005248262.3:c.13948C>A	XP_005248319.2:p.Leu4650Ile
XM_017009177.1:c.13528C>A	XP_016864666.1:p.Leu4510Ile
XM_017009178.1:c.12853C>A	XP_016864667.1:p.Leu4285Ile
XM_017009179.2:c.12853C>A	XP_016864668.1:p.Leu4285Ile
XM_017009185.1:c.9037C>A	XP_016864674.1:p.Leu3013Ile
XM_017009186.1:c.8590C>A	XP_016864675.1:p.Leu2864Ile
XM_017009188.1:c.7927C>A	XP_016864677.1:p.Leu2643Ile
XM_024454388.1:c.12853C>A	XP_024310156.1:p.Leu4285Ile
XM_024454389.1:c.12442C>A	XP_024310157.1:p.Leu4148Ile
NM_001369.3:c.13840C>A MANE Select	NP_001360.1:p.Leu4614Ile