Canonical Allele Identifier: CA443248782

Gene: DNAH5

Linked Data

• COSMIC: COSM3918671
• MyVariant Identifiers: chr5:g.13692204C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692095C>T , CM000667.2:g.13692095C>T	GRCh38
NC_000005.9:g.13692204C>T , CM000667.1:g.13692204C>T	GRCh37
NC_000005.8:g.13745204C>T	NCBI36
NG_013081.1:g.257386G>A
NG_013081.2:g.257386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1097G>A
ENST00000265104.5:c.13764G>A MANE Select	ENSP00000265104.4:p.Lys4588=
ENST00000681290.1:c.13719G>A	ENSP00000505288.1:p.Lys4573=
ENST00000265104.4:c.13764G>A	ENSP00000265104.4:p.Lys4588=
NM_001369.2:c.13764G>A	NP_001360.1:p.Lys4588=
XM_005248262.2:c.13719G>A	XP_005248319.1:p.Lys4573=
XM_005248262.3:c.13872G>A	XP_005248319.2:p.Lys4624=
XM_017009177.1:c.13452G>A	XP_016864666.1:p.Lys4484=
XM_017009178.1:c.12777G>A	XP_016864667.1:p.Lys4259=
XM_017009179.2:c.12777G>A	XP_016864668.1:p.Lys4259=
XM_017009185.1:c.8961G>A	XP_016864674.1:p.Lys2987=
XM_017009186.1:c.8514G>A	XP_016864675.1:p.Lys2838=
XM_017009188.1:c.7851G>A	XP_016864677.1:p.Lys2617=
XM_024454388.1:c.12777G>A	XP_024310156.1:p.Lys4259=
XM_024454389.1:c.12366G>A	XP_024310157.1:p.Lys4122=
NM_001369.3:c.13764G>A MANE Select	NP_001360.1:p.Lys4588=