Canonical Allele Identifier: CA359196881

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708303T>C (hg19) ; chr5:g.13708194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708194T>C , CM000667.2:g.13708194T>C	GRCh38
NC_000005.9:g.13708303T>C , CM000667.1:g.13708303T>C	GRCh37
NC_000005.8:g.13761303T>C	NCBI36
NG_013081.1:g.241287A>G
NG_013081.2:g.241287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.600A>G
ENST00000265104.5:c.13267A>G MANE Select	ENSP00000265104.4:p.Ile4423Val
ENST00000681290.1:c.13222A>G	ENSP00000505288.1:p.Ile4408Val
ENST00000265104.4:c.13267A>G	ENSP00000265104.4:p.Ile4423Val
NM_001369.2:c.13267A>G	NP_001360.1:p.Ile4423Val
XM_005248262.2:c.13222A>G	XP_005248319.1:p.Ile4408Val
XM_005248262.3:c.13375A>G	XP_005248319.2:p.Ile4459Val
XM_017009177.1:c.12955A>G	XP_016864666.1:p.Ile4319Val
XM_017009178.1:c.12280A>G	XP_016864667.1:p.Ile4094Val
XM_017009179.2:c.12280A>G	XP_016864668.1:p.Ile4094Val
XM_017009185.1:c.8464A>G	XP_016864674.1:p.Ile2822Val
XM_017009186.1:c.8017A>G	XP_016864675.1:p.Ile2673Val
XM_017009188.1:c.7354A>G	XP_016864677.1:p.Ile2452Val
XM_024454388.1:c.12280A>G	XP_024310156.1:p.Ile4094Val
XM_024454389.1:c.11869A>G	XP_024310157.1:p.Ile3957Val
NM_001369.3:c.13267A>G MANE Select	NP_001360.1:p.Ile4423Val