Canonical Allele Identifier: CA359188618

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692161G>C (hg19) ; chr5:g.13692052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692052G>C , CM000667.2:g.13692052G>C	GRCh38
NC_000005.9:g.13692161G>C , CM000667.1:g.13692161G>C	GRCh37
NC_000005.8:g.13745161G>C	NCBI36
NG_013081.1:g.257429C>G
NG_013081.2:g.257429C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1140C>G
ENST00000265104.5:c.13807C>G MANE Select	ENSP00000265104.4:p.Leu4603Val
ENST00000681290.1:c.13762C>G	ENSP00000505288.1:p.Leu4588Val
ENST00000265104.4:c.13807C>G	ENSP00000265104.4:p.Leu4603Val
NM_001369.2:c.13807C>G	NP_001360.1:p.Leu4603Val
XM_005248262.2:c.13762C>G	XP_005248319.1:p.Leu4588Val
XM_005248262.3:c.13915C>G	XP_005248319.2:p.Leu4639Val
XM_017009177.1:c.13495C>G	XP_016864666.1:p.Leu4499Val
XM_017009178.1:c.12820C>G	XP_016864667.1:p.Leu4274Val
XM_017009179.2:c.12820C>G	XP_016864668.1:p.Leu4274Val
XM_017009185.1:c.9004C>G	XP_016864674.1:p.Leu3002Val
XM_017009186.1:c.8557C>G	XP_016864675.1:p.Leu2853Val
XM_017009188.1:c.7894C>G	XP_016864677.1:p.Leu2632Val
XM_024454388.1:c.12820C>G	XP_024310156.1:p.Leu4274Val
XM_024454389.1:c.12409C>G	XP_024310157.1:p.Leu4137Val
NM_001369.3:c.13807C>G MANE Select	NP_001360.1:p.Leu4603Val