Canonical Allele Identifier: CA359188642

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692174A>C (hg19) ; chr5:g.13692065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692065A>C , CM000667.2:g.13692065A>C	GRCh38
NC_000005.9:g.13692174A>C , CM000667.1:g.13692174A>C	GRCh37
NC_000005.8:g.13745174A>C	NCBI36
NG_013081.1:g.257416T>G
NG_013081.2:g.257416T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1127T>G
ENST00000265104.5:c.13794T>G MANE Select	ENSP00000265104.4:p.Ile4598Met
ENST00000681290.1:c.13749T>G	ENSP00000505288.1:p.Ile4583Met
ENST00000265104.4:c.13794T>G	ENSP00000265104.4:p.Ile4598Met
NM_001369.2:c.13794T>G	NP_001360.1:p.Ile4598Met
XM_005248262.2:c.13749T>G	XP_005248319.1:p.Ile4583Met
XM_005248262.3:c.13902T>G	XP_005248319.2:p.Ile4634Met
XM_017009177.1:c.13482T>G	XP_016864666.1:p.Ile4494Met
XM_017009178.1:c.12807T>G	XP_016864667.1:p.Ile4269Met
XM_017009179.2:c.12807T>G	XP_016864668.1:p.Ile4269Met
XM_017009185.1:c.8991T>G	XP_016864674.1:p.Ile2997Met
XM_017009186.1:c.8544T>G	XP_016864675.1:p.Ile2848Met
XM_017009188.1:c.7881T>G	XP_016864677.1:p.Ile2627Met
XM_024454388.1:c.12807T>G	XP_024310156.1:p.Ile4269Met
XM_024454389.1:c.12396T>G	XP_024310157.1:p.Ile4132Met
NM_001369.3:c.13794T>G MANE Select	NP_001360.1:p.Ile4598Met