Canonical Allele Identifier: CA359197117

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708336T>G (hg19) ; chr5:g.13708227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708227T>G , CM000667.2:g.13708227T>G	GRCh38
NC_000005.9:g.13708336T>G , CM000667.1:g.13708336T>G	GRCh37
NC_000005.8:g.13761336T>G	NCBI36
NG_013081.1:g.241254A>C
NG_013081.2:g.241254A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.567A>C
ENST00000265104.5:c.13234A>C MANE Select	ENSP00000265104.4:p.Thr4412Pro
ENST00000681290.1:c.13189A>C	ENSP00000505288.1:p.Thr4397Pro
ENST00000265104.4:c.13234A>C	ENSP00000265104.4:p.Thr4412Pro
NM_001369.2:c.13234A>C	NP_001360.1:p.Thr4412Pro
XM_005248262.2:c.13189A>C	XP_005248319.1:p.Thr4397Pro
XM_005248262.3:c.13342A>C	XP_005248319.2:p.Thr4448Pro
XM_017009177.1:c.12922A>C	XP_016864666.1:p.Thr4308Pro
XM_017009178.1:c.12247A>C	XP_016864667.1:p.Thr4083Pro
XM_017009179.2:c.12247A>C	XP_016864668.1:p.Thr4083Pro
XM_017009185.1:c.8431A>C	XP_016864674.1:p.Thr2811Pro
XM_017009186.1:c.7984A>C	XP_016864675.1:p.Thr2662Pro
XM_017009188.1:c.7321A>C	XP_016864677.1:p.Thr2441Pro
XM_024454388.1:c.12247A>C	XP_024310156.1:p.Thr4083Pro
XM_024454389.1:c.11836A>C	XP_024310157.1:p.Thr3946Pro
NM_001369.3:c.13234A>C MANE Select	NP_001360.1:p.Thr4412Pro