Canonical Allele Identifier: CA443254669

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717520G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717411G>C , CM000667.2:g.13717411G>C	GRCh38
NC_000005.9:g.13717520G>C , CM000667.1:g.13717520G>C	GRCh37
NC_000005.8:g.13770520G>C	NCBI36
NG_013081.1:g.232070C>G
NG_013081.2:g.232070C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12609C>G MANE Select	ENSP00000265104.4:p.Ala4203=
ENST00000681290.1:c.12564C>G	ENSP00000505288.1:p.Ala4188=
ENST00000265104.4:c.12609C>G	ENSP00000265104.4:p.Ala4203=
NM_001369.2:c.12609C>G	NP_001360.1:p.Ala4203=
XM_005248262.2:c.12564C>G	XP_005248319.1:p.Ala4188=
XM_005248262.3:c.12717C>G	XP_005248319.2:p.Ala4239=
XM_017009177.1:c.12717C>G	XP_016864666.1:p.Ala4239=
XM_017009178.1:c.11622C>G	XP_016864667.1:p.Ala3874=
XM_017009179.2:c.11622C>G	XP_016864668.1:p.Ala3874=
XM_017009180.1:c.12717C>G	XP_016864669.1:p.Ala4239=
XM_017009185.1:c.7806C>G	XP_016864674.1:p.Ala2602=
XM_017009186.1:c.7359C>G	XP_016864675.1:p.Ala2453=
XM_017009188.1:c.6696C>G	XP_016864677.1:p.Ala2232=
XM_024454388.1:c.11622C>G	XP_024310156.1:p.Ala3874=
XM_024454389.1:c.11211C>G	XP_024310157.1:p.Ala3737=
NM_001369.3:c.12609C>G MANE Select	NP_001360.1:p.Ala4203=