Canonical Allele Identifier: CA359189721

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752267G>C (hg19) ; chr5:g.13752158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752158G>C , CM000667.2:g.13752158G>C	GRCh38
NC_000005.9:g.13752267G>C , CM000667.1:g.13752267G>C	GRCh37
NC_000005.8:g.13805267G>C	NCBI36
NG_013081.1:g.197323C>G
NG_013081.2:g.197323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11004C>G MANE Select	ENSP00000265104.4:p.Phe3668Leu
ENST00000681290.1:c.10959C>G	ENSP00000505288.1:p.Phe3653Leu
ENST00000265104.4:c.11004C>G	ENSP00000265104.4:p.Phe3668Leu
NM_001369.2:c.11004C>G	NP_001360.1:p.Phe3668Leu
XM_005248262.2:c.10959C>G	XP_005248319.1:p.Phe3653Leu
XM_005248262.3:c.11112C>G	XP_005248319.2:p.Phe3704Leu
XM_017009177.1:c.11112C>G	XP_016864666.1:p.Phe3704Leu
XM_017009178.1:c.10017C>G	XP_016864667.1:p.Phe3339Leu
XM_017009179.2:c.10017C>G	XP_016864668.1:p.Phe3339Leu
XM_017009180.1:c.11112C>G	XP_016864669.1:p.Phe3704Leu
XM_017009181.1:c.11112C>G	XP_016864670.1:p.Phe3704Leu
XM_017009182.1:c.11112C>G	XP_016864671.1:p.Phe3704Leu
XM_017009185.1:c.6201C>G	XP_016864674.1:p.Phe2067Leu
XM_017009186.1:c.5754C>G	XP_016864675.1:p.Phe1918Leu
XM_017009188.1:c.5091C>G	XP_016864677.1:p.Phe1697Leu
XM_024454388.1:c.10017C>G	XP_024310156.1:p.Phe3339Leu
XM_024454389.1:c.9606C>G	XP_024310157.1:p.Phe3202Leu
NM_001369.3:c.11004C>G MANE Select	NP_001360.1:p.Phe3668Leu