Canonical Allele Identifier: CA443248748

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692080-C-A
• MyVariant Identifiers: chr5:g.13692189C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692080C>A , CM000667.2:g.13692080C>A	GRCh38
NC_000005.9:g.13692189C>A , CM000667.1:g.13692189C>A	GRCh37
NC_000005.8:g.13745189C>A	NCBI36
NG_013081.1:g.257401G>T
NG_013081.2:g.257401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1112G>T
ENST00000265104.5:c.13779G>T MANE Select	ENSP00000265104.4:p.Thr4593=
ENST00000681290.1:c.13734G>T	ENSP00000505288.1:p.Thr4578=
ENST00000265104.4:c.13779G>T	ENSP00000265104.4:p.Thr4593=
NM_001369.2:c.13779G>T	NP_001360.1:p.Thr4593=
XM_005248262.2:c.13734G>T	XP_005248319.1:p.Thr4578=
XM_005248262.3:c.13887G>T	XP_005248319.2:p.Thr4629=
XM_017009177.1:c.13467G>T	XP_016864666.1:p.Thr4489=
XM_017009178.1:c.12792G>T	XP_016864667.1:p.Thr4264=
XM_017009179.2:c.12792G>T	XP_016864668.1:p.Thr4264=
XM_017009185.1:c.8976G>T	XP_016864674.1:p.Thr2992=
XM_017009186.1:c.8529G>T	XP_016864675.1:p.Thr2843=
XM_017009188.1:c.7866G>T	XP_016864677.1:p.Thr2622=
XM_024454388.1:c.12792G>T	XP_024310156.1:p.Thr4264=
XM_024454389.1:c.12381G>T	XP_024310157.1:p.Thr4127=
NM_001369.3:c.13779G>T MANE Select	NP_001360.1:p.Thr4593=