Canonical Allele Identifier: CA359218814

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919338C>A (hg19) ; chr5:g.13919229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919229C>A , CM000667.2:g.13919229C>A	GRCh38
NC_000005.9:g.13919338C>A , CM000667.1:g.13919338C>A	GRCh37
NC_000005.8:g.13972338C>A	NCBI36
NG_013081.1:g.30252G>T
NG_013081.2:g.30252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.978G>T
ENST00000682376.1:n.966G>T
ENST00000682586.1:n.1015G>T
ENST00000683011.1:n.861G>T
ENST00000683967.1:n.1021G>T
ENST00000684013.1:n.1021G>T
ENST00000684099.1:n.1017G>T
ENST00000265104.5:c.922G>T MANE Select	ENSP00000265104.4:p.Asp308Tyr
ENST00000680213.1:c.682G>T	ENSP00000506622.1:p.Asp228Tyr
ENST00000681290.1:c.877G>T	ENSP00000505288.1:p.Asp293Tyr
ENST00000265104.4:c.922G>T	ENSP00000265104.4:p.Asp308Tyr
ENST00000508040.1:n.1330G>T
NM_001369.2:c.922G>T	NP_001360.1:p.Asp308Tyr
XM_005248262.2:c.877G>T	XP_005248319.1:p.Asp293Tyr
XM_011513990.1:c.922G>T	XP_011512292.1:p.Asp308Tyr
XR_925598.1:n.1129G>T
XM_005248262.3:c.1030G>T	XP_005248319.2:p.Asp344Tyr
XM_017009177.1:c.1030G>T	XP_016864666.1:p.Asp344Tyr
XM_017009178.1:c.-66G>T	XP_016864667.1:n.-66G>T
XM_017009180.1:c.1030G>T	XP_016864669.1:p.Asp344Tyr
XM_017009181.1:c.1030G>T	XP_016864670.1:p.Asp344Tyr
XM_017009182.1:c.1030G>T	XP_016864671.1:p.Asp344Tyr
XM_017009183.1:c.1030G>T	XP_016864672.1:p.Asp344Tyr
XM_017009184.1:c.1030G>T	XP_016864673.1:p.Asp344Tyr
XM_017009187.1:c.1030G>T	XP_016864676.1:p.Asp344Tyr
XM_024454388.1:c.-1985G>T	XP_024310156.1:n.-1985G>T
XM_024454389.1:c.-1038G>T	XP_024310157.1:n.-1038G>T
XR_001742034.1:n.1047G>T
XR_001742035.1:n.1047G>T
NM_001369.3:c.922G>T MANE Select	NP_001360.1:p.Asp308Tyr