Canonical Allele Identifier: CA359209729

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9130G>C MANE Select	ENSP00000265104.4:p.Glu3044Gln
ENST00000681290.1:c.9085G>C	ENSP00000505288.1:p.Glu3029Gln
ENST00000265104.4:c.9130G>C	ENSP00000265104.4:p.Glu3044Gln
NM_001369.2:c.9130G>C	NP_001360.1:p.Glu3044Gln
XM_005248262.2:c.9085G>C	XP_005248319.1:p.Glu3029Gln
XM_011513990.1:c.*17G>C	XP_011512292.1:n.*17G>C
XR_925598.1:n.9201G>C
XM_005248262.3:c.9238G>C	XP_005248319.2:p.Glu3080Gln
XM_017009177.1:c.9238G>C	XP_016864666.1:p.Glu3080Gln
XM_017009178.1:c.8143G>C	XP_016864667.1:p.Glu2715Gln
XM_017009179.2:c.8143G>C	XP_016864668.1:p.Glu2715Gln
XM_017009180.1:c.9238G>C	XP_016864669.1:p.Glu3080Gln
XM_017009181.1:c.9238G>C	XP_016864670.1:p.Glu3080Gln
XM_017009182.1:c.9238G>C	XP_016864671.1:p.Glu3080Gln
XM_017009183.1:c.9238G>C	XP_016864672.1:p.Glu3080Gln
XM_017009184.1:c.*17G>C	XP_016864673.1:n.*17G>C
XM_017009185.1:c.4327G>C	XP_016864674.1:p.Glu1443Gln
XM_017009186.1:c.3880G>C	XP_016864675.1:p.Glu1294Gln
XM_017009188.1:c.3217G>C	XP_016864677.1:p.Glu1073Gln
XM_024454388.1:c.8143G>C	XP_024310156.1:p.Glu2715Gln
XM_024454389.1:c.7732G>C	XP_024310157.1:p.Glu2578Gln
XR_001742034.1:n.9124G>C
XR_001742035.1:n.9119G>C
NM_001369.3:c.9130G>C MANE Select	NP_001360.1:p.Glu3044Gln