Canonical Allele Identifier: CA359192124

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753593G>T (hg19) ; chr5:g.13753484G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753484G>T , CM000667.2:g.13753484G>T	GRCh38
NC_000005.9:g.13753593G>T , CM000667.1:g.13753593G>T	GRCh37
NC_000005.8:g.13806593G>T	NCBI36
NG_013081.1:g.195997C>A
NG_013081.2:g.195997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10621C>A MANE Select	ENSP00000265104.4:p.Leu3541Ile
ENST00000681290.1:c.10576C>A	ENSP00000505288.1:p.Leu3526Ile
ENST00000265104.4:c.10621C>A	ENSP00000265104.4:p.Leu3541Ile
NM_001369.2:c.10621C>A	NP_001360.1:p.Leu3541Ile
XM_005248262.2:c.10576C>A	XP_005248319.1:p.Leu3526Ile
XM_005248262.3:c.10729C>A	XP_005248319.2:p.Leu3577Ile
XM_017009177.1:c.10729C>A	XP_016864666.1:p.Leu3577Ile
XM_017009178.1:c.9634C>A	XP_016864667.1:p.Leu3212Ile
XM_017009179.2:c.9634C>A	XP_016864668.1:p.Leu3212Ile
XM_017009180.1:c.10729C>A	XP_016864669.1:p.Leu3577Ile
XM_017009181.1:c.10729C>A	XP_016864670.1:p.Leu3577Ile
XM_017009182.1:c.10729C>A	XP_016864671.1:p.Leu3577Ile
XM_017009185.1:c.5818C>A	XP_016864674.1:p.Leu1940Ile
XM_017009186.1:c.5371C>A	XP_016864675.1:p.Leu1791Ile
XM_017009188.1:c.4708C>A	XP_016864677.1:p.Leu1570Ile
XM_024454388.1:c.9634C>A	XP_024310156.1:p.Leu3212Ile
XM_024454389.1:c.9223C>A	XP_024310157.1:p.Leu3075Ile
NM_001369.3:c.10621C>A MANE Select	NP_001360.1:p.Leu3541Ile