Canonical Allele Identifier: CA443248625

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692126G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692017G>A , CM000667.2:g.13692017G>A	GRCh38
NC_000005.9:g.13692126G>A , CM000667.1:g.13692126G>A	GRCh37
NC_000005.8:g.13745126G>A	NCBI36
NG_013081.1:g.257464C>T
NG_013081.2:g.257464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1175C>T
ENST00000265104.5:c.13842C>T MANE Select	ENSP00000265104.4:p.Leu4614=
ENST00000681290.1:c.13797C>T	ENSP00000505288.1:p.Leu4599=
ENST00000265104.4:c.13842C>T	ENSP00000265104.4:p.Leu4614=
NM_001369.2:c.13842C>T	NP_001360.1:p.Leu4614=
XM_005248262.2:c.13797C>T	XP_005248319.1:p.Leu4599=
XM_005248262.3:c.13950C>T	XP_005248319.2:p.Leu4650=
XM_017009177.1:c.13530C>T	XP_016864666.1:p.Leu4510=
XM_017009178.1:c.12855C>T	XP_016864667.1:p.Leu4285=
XM_017009179.2:c.12855C>T	XP_016864668.1:p.Leu4285=
XM_017009185.1:c.9039C>T	XP_016864674.1:p.Leu3013=
XM_017009186.1:c.8592C>T	XP_016864675.1:p.Leu2864=
XM_017009188.1:c.7929C>T	XP_016864677.1:p.Leu2643=
XM_024454388.1:c.12855C>T	XP_024310156.1:p.Leu4285=
XM_024454389.1:c.12444C>T	XP_024310157.1:p.Leu4148=
NM_001369.3:c.13842C>T MANE Select	NP_001360.1:p.Leu4614=