Canonical Allele Identifier: CA359196800

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708296C>A (hg19) ; chr5:g.13708187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708187C>A , CM000667.2:g.13708187C>A	GRCh38
NC_000005.9:g.13708296C>A , CM000667.1:g.13708296C>A	GRCh37
NC_000005.8:g.13761296C>A	NCBI36
NG_013081.1:g.241294G>T
NG_013081.2:g.241294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.607G>T
ENST00000265104.5:c.13274G>T MANE Select	ENSP00000265104.4:p.Ser4425Ile
ENST00000681290.1:c.13229G>T	ENSP00000505288.1:p.Ser4410Ile
ENST00000265104.4:c.13274G>T	ENSP00000265104.4:p.Ser4425Ile
NM_001369.2:c.13274G>T	NP_001360.1:p.Ser4425Ile
XM_005248262.2:c.13229G>T	XP_005248319.1:p.Ser4410Ile
XM_005248262.3:c.13382G>T	XP_005248319.2:p.Ser4461Ile
XM_017009177.1:c.12962G>T	XP_016864666.1:p.Ser4321Ile
XM_017009178.1:c.12287G>T	XP_016864667.1:p.Ser4096Ile
XM_017009179.2:c.12287G>T	XP_016864668.1:p.Ser4096Ile
XM_017009185.1:c.8471G>T	XP_016864674.1:p.Ser2824Ile
XM_017009186.1:c.8024G>T	XP_016864675.1:p.Ser2675Ile
XM_017009188.1:c.7361G>T	XP_016864677.1:p.Ser2454Ile
XM_024454388.1:c.12287G>T	XP_024310156.1:p.Ser4096Ile
XM_024454389.1:c.11876G>T	XP_024310157.1:p.Ser3959Ile
NM_001369.3:c.13274G>T MANE Select	NP_001360.1:p.Ser4425Ile