Canonical Allele Identifier: CA359188754

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692227A>C (hg19) ; chr5:g.13692118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692118A>C , CM000667.2:g.13692118A>C	GRCh38
NC_000005.9:g.13692227A>C , CM000667.1:g.13692227A>C	GRCh37
NC_000005.8:g.13745227A>C	NCBI36
NG_013081.1:g.257363T>G
NG_013081.2:g.257363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1074T>G
ENST00000265104.5:c.13741T>G MANE Select	ENSP00000265104.4:p.Phe4581Val
ENST00000681290.1:c.13696T>G	ENSP00000505288.1:p.Phe4566Val
ENST00000265104.4:c.13741T>G	ENSP00000265104.4:p.Phe4581Val
NM_001369.2:c.13741T>G	NP_001360.1:p.Phe4581Val
XM_005248262.2:c.13696T>G	XP_005248319.1:p.Phe4566Val
XM_005248262.3:c.13849T>G	XP_005248319.2:p.Phe4617Val
XM_017009177.1:c.13429T>G	XP_016864666.1:p.Phe4477Val
XM_017009178.1:c.12754T>G	XP_016864667.1:p.Phe4252Val
XM_017009179.2:c.12754T>G	XP_016864668.1:p.Phe4252Val
XM_017009185.1:c.8938T>G	XP_016864674.1:p.Phe2980Val
XM_017009186.1:c.8491T>G	XP_016864675.1:p.Phe2831Val
XM_017009188.1:c.7828T>G	XP_016864677.1:p.Phe2610Val
XM_024454388.1:c.12754T>G	XP_024310156.1:p.Phe4252Val
XM_024454389.1:c.12343T>G	XP_024310157.1:p.Phe4115Val
NM_001369.3:c.13741T>G MANE Select	NP_001360.1:p.Phe4581Val