Canonical Allele Identifier: CA443248714

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692165C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692056C>G , CM000667.2:g.13692056C>G	GRCh38
NC_000005.9:g.13692165C>G , CM000667.1:g.13692165C>G	GRCh37
NC_000005.8:g.13745165C>G	NCBI36
NG_013081.1:g.257425G>C
NG_013081.2:g.257425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1136G>C
ENST00000265104.5:c.13803G>C MANE Select	ENSP00000265104.4:p.Val4601=
ENST00000681290.1:c.13758G>C	ENSP00000505288.1:p.Val4586=
ENST00000265104.4:c.13803G>C	ENSP00000265104.4:p.Val4601=
NM_001369.2:c.13803G>C	NP_001360.1:p.Val4601=
XM_005248262.2:c.13758G>C	XP_005248319.1:p.Val4586=
XM_005248262.3:c.13911G>C	XP_005248319.2:p.Val4637=
XM_017009177.1:c.13491G>C	XP_016864666.1:p.Val4497=
XM_017009178.1:c.12816G>C	XP_016864667.1:p.Val4272=
XM_017009179.2:c.12816G>C	XP_016864668.1:p.Val4272=
XM_017009185.1:c.9000G>C	XP_016864674.1:p.Val3000=
XM_017009186.1:c.8553G>C	XP_016864675.1:p.Val2851=
XM_017009188.1:c.7890G>C	XP_016864677.1:p.Val2630=
XM_024454388.1:c.12816G>C	XP_024310156.1:p.Val4272=
XM_024454389.1:c.12405G>C	XP_024310157.1:p.Val4135=
NM_001369.3:c.13803G>C MANE Select	NP_001360.1:p.Val4601=