Canonical Allele Identifier: CA443248764

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692195A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692086A>G , CM000667.2:g.13692086A>G	GRCh38
NC_000005.9:g.13692195A>G , CM000667.1:g.13692195A>G	GRCh37
NC_000005.8:g.13745195A>G	NCBI36
NG_013081.1:g.257395T>C
NG_013081.2:g.257395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1106T>C
ENST00000265104.5:c.13773T>C MANE Select	ENSP00000265104.4:p.Val4591=
ENST00000681290.1:c.13728T>C	ENSP00000505288.1:p.Val4576=
ENST00000265104.4:c.13773T>C	ENSP00000265104.4:p.Val4591=
NM_001369.2:c.13773T>C	NP_001360.1:p.Val4591=
XM_005248262.2:c.13728T>C	XP_005248319.1:p.Val4576=
XM_005248262.3:c.13881T>C	XP_005248319.2:p.Val4627=
XM_017009177.1:c.13461T>C	XP_016864666.1:p.Val4487=
XM_017009178.1:c.12786T>C	XP_016864667.1:p.Val4262=
XM_017009179.2:c.12786T>C	XP_016864668.1:p.Val4262=
XM_017009185.1:c.8970T>C	XP_016864674.1:p.Val2990=
XM_017009186.1:c.8523T>C	XP_016864675.1:p.Val2841=
XM_017009188.1:c.7860T>C	XP_016864677.1:p.Val2620=
XM_024454388.1:c.12786T>C	XP_024310156.1:p.Val4262=
XM_024454389.1:c.12375T>C	XP_024310157.1:p.Val4125=
NM_001369.3:c.13773T>C MANE Select	NP_001360.1:p.Val4591=