Canonical Allele Identifier: CA443248783

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692207A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692098A>G , CM000667.2:g.13692098A>G	GRCh38
NC_000005.9:g.13692207A>G , CM000667.1:g.13692207A>G	GRCh37
NC_000005.8:g.13745207A>G	NCBI36
NG_013081.1:g.257383T>C
NG_013081.2:g.257383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1094T>C
ENST00000265104.5:c.13761T>C MANE Select	ENSP00000265104.4:p.Tyr4587=
ENST00000681290.1:c.13716T>C	ENSP00000505288.1:p.Tyr4572=
ENST00000265104.4:c.13761T>C	ENSP00000265104.4:p.Tyr4587=
NM_001369.2:c.13761T>C	NP_001360.1:p.Tyr4587=
XM_005248262.2:c.13716T>C	XP_005248319.1:p.Tyr4572=
XM_005248262.3:c.13869T>C	XP_005248319.2:p.Tyr4623=
XM_017009177.1:c.13449T>C	XP_016864666.1:p.Tyr4483=
XM_017009178.1:c.12774T>C	XP_016864667.1:p.Tyr4258=
XM_017009179.2:c.12774T>C	XP_016864668.1:p.Tyr4258=
XM_017009185.1:c.8958T>C	XP_016864674.1:p.Tyr2986=
XM_017009186.1:c.8511T>C	XP_016864675.1:p.Tyr2837=
XM_017009188.1:c.7848T>C	XP_016864677.1:p.Tyr2616=
XM_024454388.1:c.12774T>C	XP_024310156.1:p.Tyr4258=
XM_024454389.1:c.12363T>C	XP_024310157.1:p.Tyr4121=
NM_001369.3:c.13761T>C MANE Select	NP_001360.1:p.Tyr4587=