Canonical Allele Identifier: CA113905458

Gene: DNAH5

Linked Data

• dbSNP Id: rs867446476
• MyVariant Identifiers: chr5:g.13692159G>A (hg19) ; chr5:g.13692050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692050G>A , CM000667.2:g.13692050G>A	GRCh38
NC_000005.9:g.13692159G>A , CM000667.1:g.13692159G>A	GRCh37
NC_000005.8:g.13745159G>A	NCBI36
NG_013081.1:g.257431C>T
NG_013081.2:g.257431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1142C>T
ENST00000265104.5:c.13809C>T MANE Select	ENSP00000265104.4:p.Leu4603=
ENST00000681290.1:c.13764C>T	ENSP00000505288.1:p.Leu4588=
ENST00000265104.4:c.13809C>T	ENSP00000265104.4:p.Leu4603=
NM_001369.2:c.13809C>T	NP_001360.1:p.Leu4603=
XM_005248262.2:c.13764C>T	XP_005248319.1:p.Leu4588=
XM_005248262.3:c.13917C>T	XP_005248319.2:p.Leu4639=
XM_017009177.1:c.13497C>T	XP_016864666.1:p.Leu4499=
XM_017009178.1:c.12822C>T	XP_016864667.1:p.Leu4274=
XM_017009179.2:c.12822C>T	XP_016864668.1:p.Leu4274=
XM_017009185.1:c.9006C>T	XP_016864674.1:p.Leu3002=
XM_017009186.1:c.8559C>T	XP_016864675.1:p.Leu2853=
XM_017009188.1:c.7896C>T	XP_016864677.1:p.Leu2632=
XM_024454388.1:c.12822C>T	XP_024310156.1:p.Leu4274=
XM_024454389.1:c.12411C>T	XP_024310157.1:p.Leu4137=
NM_001369.3:c.13809C>T MANE Select	NP_001360.1:p.Leu4603=