Canonical Allele Identifier: CA359196795

Gene: DNAH5

Linked Data

• COSMIC: COSM1204074
• MyVariant Identifiers: chr5:g.13708295G>T (hg19) ; chr5:g.13708186G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708186G>T , CM000667.2:g.13708186G>T	GRCh38
NC_000005.9:g.13708295G>T , CM000667.1:g.13708295G>T	GRCh37
NC_000005.8:g.13761295G>T	NCBI36
NG_013081.1:g.241295C>A
NG_013081.2:g.241295C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.608C>A
ENST00000265104.5:c.13275C>A MANE Select	ENSP00000265104.4:p.Ser4425Arg
ENST00000681290.1:c.13230C>A	ENSP00000505288.1:p.Ser4410Arg
ENST00000265104.4:c.13275C>A	ENSP00000265104.4:p.Ser4425Arg
NM_001369.2:c.13275C>A	NP_001360.1:p.Ser4425Arg
XM_005248262.2:c.13230C>A	XP_005248319.1:p.Ser4410Arg
XM_005248262.3:c.13383C>A	XP_005248319.2:p.Ser4461Arg
XM_017009177.1:c.12963C>A	XP_016864666.1:p.Ser4321Arg
XM_017009178.1:c.12288C>A	XP_016864667.1:p.Ser4096Arg
XM_017009179.2:c.12288C>A	XP_016864668.1:p.Ser4096Arg
XM_017009185.1:c.8472C>A	XP_016864674.1:p.Ser2824Arg
XM_017009186.1:c.8025C>A	XP_016864675.1:p.Ser2675Arg
XM_017009188.1:c.7362C>A	XP_016864677.1:p.Ser2454Arg
XM_024454388.1:c.12288C>A	XP_024310156.1:p.Ser4096Arg
XM_024454389.1:c.11877C>A	XP_024310157.1:p.Ser3959Arg
NM_001369.3:c.13275C>A MANE Select	NP_001360.1:p.Ser4425Arg