Canonical Allele Identifier: CA359209725

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776791C>A (hg19) ; chr5:g.13776682C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776682C>A , CM000667.2:g.13776682C>A	GRCh38
NC_000005.9:g.13776791C>A , CM000667.1:g.13776791C>A	GRCh37
NC_000005.8:g.13829791C>A	NCBI36
NG_013081.1:g.172799G>T
NG_013081.2:g.172799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9130G>T MANE Select	ENSP00000265104.4:p.Glu3044Ter
ENST00000681290.1:c.9085G>T	ENSP00000505288.1:p.Glu3029Ter
ENST00000265104.4:c.9130G>T	ENSP00000265104.4:p.Glu3044Ter
NM_001369.2:c.9130G>T	NP_001360.1:p.Glu3044Ter
XM_005248262.2:c.9085G>T	XP_005248319.1:p.Glu3029Ter
XM_011513990.1:c.*17G>T	XP_011512292.1:n.*17G>T
XR_925598.1:n.9201G>T
XM_005248262.3:c.9238G>T	XP_005248319.2:p.Glu3080Ter
XM_017009177.1:c.9238G>T	XP_016864666.1:p.Glu3080Ter
XM_017009178.1:c.8143G>T	XP_016864667.1:p.Glu2715Ter
XM_017009179.2:c.8143G>T	XP_016864668.1:p.Glu2715Ter
XM_017009180.1:c.9238G>T	XP_016864669.1:p.Glu3080Ter
XM_017009181.1:c.9238G>T	XP_016864670.1:p.Glu3080Ter
XM_017009182.1:c.9238G>T	XP_016864671.1:p.Glu3080Ter
XM_017009183.1:c.9238G>T	XP_016864672.1:p.Glu3080Ter
XM_017009184.1:c.*17G>T	XP_016864673.1:n.*17G>T
XM_017009185.1:c.4327G>T	XP_016864674.1:p.Glu1443Ter
XM_017009186.1:c.3880G>T	XP_016864675.1:p.Glu1294Ter
XM_017009188.1:c.3217G>T	XP_016864677.1:p.Glu1073Ter
XM_024454388.1:c.8143G>T	XP_024310156.1:p.Glu2715Ter
XM_024454389.1:c.7732G>T	XP_024310157.1:p.Glu2578Ter
XR_001742034.1:n.9124G>T
XR_001742035.1:n.9119G>T
NM_001369.3:c.9130G>T MANE Select	NP_001360.1:p.Glu3044Ter