Canonical Allele Identifier: CA359197108

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.567A>T
ENST00000265104.5:c.13234A>T MANE Select	ENSP00000265104.4:p.Thr4412Ser
ENST00000681290.1:c.13189A>T	ENSP00000505288.1:p.Thr4397Ser
ENST00000265104.4:c.13234A>T	ENSP00000265104.4:p.Thr4412Ser
NM_001369.2:c.13234A>T	NP_001360.1:p.Thr4412Ser
XM_005248262.2:c.13189A>T	XP_005248319.1:p.Thr4397Ser
XM_005248262.3:c.13342A>T	XP_005248319.2:p.Thr4448Ser
XM_017009177.1:c.12922A>T	XP_016864666.1:p.Thr4308Ser
XM_017009178.1:c.12247A>T	XP_016864667.1:p.Thr4083Ser
XM_017009179.2:c.12247A>T	XP_016864668.1:p.Thr4083Ser
XM_017009185.1:c.8431A>T	XP_016864674.1:p.Thr2811Ser
XM_017009186.1:c.7984A>T	XP_016864675.1:p.Thr2662Ser
XM_017009188.1:c.7321A>T	XP_016864677.1:p.Thr2441Ser
XM_024454388.1:c.12247A>T	XP_024310156.1:p.Thr4083Ser
XM_024454389.1:c.11836A>T	XP_024310157.1:p.Thr3946Ser
NM_001369.3:c.13234A>T MANE Select	NP_001360.1:p.Thr4412Ser