Canonical Allele Identifier: CA359188546

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1173C>G
ENST00000265104.5:c.13840C>G MANE Select	ENSP00000265104.4:p.Leu4614Val
ENST00000681290.1:c.13795C>G	ENSP00000505288.1:p.Leu4599Val
ENST00000265104.4:c.13840C>G	ENSP00000265104.4:p.Leu4614Val
NM_001369.2:c.13840C>G	NP_001360.1:p.Leu4614Val
XM_005248262.2:c.13795C>G	XP_005248319.1:p.Leu4599Val
XM_005248262.3:c.13948C>G	XP_005248319.2:p.Leu4650Val
XM_017009177.1:c.13528C>G	XP_016864666.1:p.Leu4510Val
XM_017009178.1:c.12853C>G	XP_016864667.1:p.Leu4285Val
XM_017009179.2:c.12853C>G	XP_016864668.1:p.Leu4285Val
XM_017009185.1:c.9037C>G	XP_016864674.1:p.Leu3013Val
XM_017009186.1:c.8590C>G	XP_016864675.1:p.Leu2864Val
XM_017009188.1:c.7927C>G	XP_016864677.1:p.Leu2643Val
XM_024454388.1:c.12853C>G	XP_024310156.1:p.Leu4285Val
XM_024454389.1:c.12442C>G	XP_024310157.1:p.Leu4148Val
NM_001369.3:c.13840C>G MANE Select	NP_001360.1:p.Leu4614Val