Canonical Allele Identifier: CA359188617

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692161G>T (hg19) ; chr5:g.13692052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692052G>T , CM000667.2:g.13692052G>T	GRCh38
NC_000005.9:g.13692161G>T , CM000667.1:g.13692161G>T	GRCh37
NC_000005.8:g.13745161G>T	NCBI36
NG_013081.1:g.257429C>A
NG_013081.2:g.257429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1140C>A
ENST00000265104.5:c.13807C>A MANE Select	ENSP00000265104.4:p.Leu4603Ile
ENST00000681290.1:c.13762C>A	ENSP00000505288.1:p.Leu4588Ile
ENST00000265104.4:c.13807C>A	ENSP00000265104.4:p.Leu4603Ile
NM_001369.2:c.13807C>A	NP_001360.1:p.Leu4603Ile
XM_005248262.2:c.13762C>A	XP_005248319.1:p.Leu4588Ile
XM_005248262.3:c.13915C>A	XP_005248319.2:p.Leu4639Ile
XM_017009177.1:c.13495C>A	XP_016864666.1:p.Leu4499Ile
XM_017009178.1:c.12820C>A	XP_016864667.1:p.Leu4274Ile
XM_017009179.2:c.12820C>A	XP_016864668.1:p.Leu4274Ile
XM_017009185.1:c.9004C>A	XP_016864674.1:p.Leu3002Ile
XM_017009186.1:c.8557C>A	XP_016864675.1:p.Leu2853Ile
XM_017009188.1:c.7894C>A	XP_016864677.1:p.Leu2632Ile
XM_024454388.1:c.12820C>A	XP_024310156.1:p.Leu4274Ile
XM_024454389.1:c.12409C>A	XP_024310157.1:p.Leu4137Ile
NM_001369.3:c.13807C>A MANE Select	NP_001360.1:p.Leu4603Ile