Canonical Allele Identifier: CA443535618

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776581-C-A
• MyVariant Identifiers: chr5:g.13776690C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776581C>A , CM000667.2:g.13776581C>A	GRCh38
NC_000005.9:g.13776690C>A , CM000667.1:g.13776690C>A	GRCh37
NC_000005.8:g.13829690C>A	NCBI36
NG_013081.1:g.172900G>T
NG_013081.2:g.172900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9231G>T MANE Select	ENSP00000265104.4:p.Arg3077=
ENST00000681290.1:c.9186G>T	ENSP00000505288.1:p.Arg3062=
ENST00000265104.4:c.9231G>T	ENSP00000265104.4:p.Arg3077=
NM_001369.2:c.9231G>T	NP_001360.1:p.Arg3077=
XM_005248262.2:c.9186G>T	XP_005248319.1:p.Arg3062=
XM_005248262.3:c.9339G>T	XP_005248319.2:p.Arg3113=
XM_017009177.1:c.9339G>T	XP_016864666.1:p.Arg3113=
XM_017009178.1:c.8244G>T	XP_016864667.1:p.Arg2748=
XM_017009179.2:c.8244G>T	XP_016864668.1:p.Arg2748=
XM_017009180.1:c.9339G>T	XP_016864669.1:p.Arg3113=
XM_017009181.1:c.9339G>T	XP_016864670.1:p.Arg3113=
XM_017009182.1:c.9339G>T	XP_016864671.1:p.Arg3113=
XM_017009183.1:c.9339G>T	XP_016864672.1:p.Arg3113=
XM_017009185.1:c.4428G>T	XP_016864674.1:p.Arg1476=
XM_017009186.1:c.3981G>T	XP_016864675.1:p.Arg1327=
XM_017009188.1:c.3318G>T	XP_016864677.1:p.Arg1106=
XM_024454388.1:c.8244G>T	XP_024310156.1:p.Arg2748=
XM_024454389.1:c.7833G>T	XP_024310157.1:p.Arg2611=
NM_001369.3:c.9231G>T MANE Select	NP_001360.1:p.Arg3077=