Canonical Allele Identifier: CA443251110

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708313A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708204A>G , CM000667.2:g.13708204A>G	GRCh38
NC_000005.9:g.13708313A>G , CM000667.1:g.13708313A>G	GRCh37
NC_000005.8:g.13761313A>G	NCBI36
NG_013081.1:g.241277T>C
NG_013081.2:g.241277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.590T>C
ENST00000265104.5:c.13257T>C MANE Select	ENSP00000265104.4:p.Asp4419=
ENST00000681290.1:c.13212T>C	ENSP00000505288.1:p.Asp4404=
ENST00000265104.4:c.13257T>C	ENSP00000265104.4:p.Asp4419=
NM_001369.2:c.13257T>C	NP_001360.1:p.Asp4419=
XM_005248262.2:c.13212T>C	XP_005248319.1:p.Asp4404=
XM_005248262.3:c.13365T>C	XP_005248319.2:p.Asp4455=
XM_017009177.1:c.12945T>C	XP_016864666.1:p.Asp4315=
XM_017009178.1:c.12270T>C	XP_016864667.1:p.Asp4090=
XM_017009179.2:c.12270T>C	XP_016864668.1:p.Asp4090=
XM_017009185.1:c.8454T>C	XP_016864674.1:p.Asp2818=
XM_017009186.1:c.8007T>C	XP_016864675.1:p.Asp2669=
XM_017009188.1:c.7344T>C	XP_016864677.1:p.Asp2448=
XM_024454388.1:c.12270T>C	XP_024310156.1:p.Asp4090=
XM_024454389.1:c.11859T>C	XP_024310157.1:p.Asp3953=
NM_001369.3:c.13257T>C MANE Select	NP_001360.1:p.Asp4419=