Canonical Allele Identifier: CA359211845

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13841938C>G (hg19) ; chr5:g.13841829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841829C>G , CM000667.2:g.13841829C>G	GRCh38
NC_000005.9:g.13841938C>G , CM000667.1:g.13841938C>G	GRCh37
NC_000005.8:g.13894938C>G	NCBI36
NG_013081.1:g.107652G>C
NG_013081.2:g.107652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5347G>C MANE Select	ENSP00000265104.4:p.Gly1783Arg
ENST00000681290.1:c.5302G>C	ENSP00000505288.1:p.Gly1768Arg
ENST00000265104.4:c.5347G>C	ENSP00000265104.4:p.Gly1783Arg
NM_001369.2:c.5347G>C	NP_001360.1:p.Gly1783Arg
XM_005248262.2:c.5302G>C	XP_005248319.1:p.Gly1768Arg
XM_011513990.1:c.5347G>C	XP_011512292.1:p.Gly1783Arg
XR_925598.1:n.5554G>C
XM_005248262.3:c.5455G>C	XP_005248319.2:p.Gly1819Arg
XM_017009177.1:c.5455G>C	XP_016864666.1:p.Gly1819Arg
XM_017009178.1:c.4360G>C	XP_016864667.1:p.Gly1454Arg
XM_017009179.2:c.4360G>C	XP_016864668.1:p.Gly1454Arg
XM_017009180.1:c.5455G>C	XP_016864669.1:p.Gly1819Arg
XM_017009181.1:c.5455G>C	XP_016864670.1:p.Gly1819Arg
XM_017009182.1:c.5455G>C	XP_016864671.1:p.Gly1819Arg
XM_017009183.1:c.5455G>C	XP_016864672.1:p.Gly1819Arg
XM_017009184.1:c.5455G>C	XP_016864673.1:p.Gly1819Arg
XM_017009185.1:c.544G>C	XP_016864674.1:p.Gly182Arg
XM_017009186.1:c.97G>C	XP_016864675.1:p.Gly33Arg
XM_017009187.1:c.5455G>C	XP_016864676.1:p.Gly1819Arg
XM_024454388.1:c.4360G>C	XP_024310156.1:p.Gly1454Arg
XM_024454389.1:c.3949G>C	XP_024310157.1:p.Gly1317Arg
XR_001742034.1:n.5472G>C
XR_001742035.1:n.5472G>C
NM_001369.3:c.5347G>C MANE Select	NP_001360.1:p.Gly1783Arg