Canonical Allele Identifier: CA359223023

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735309A>T (hg19) ; chr5:g.13735200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735200A>T , CM000667.2:g.13735200A>T	GRCh38
NC_000005.9:g.13735309A>T , CM000667.1:g.13735309A>T	GRCh37
NC_000005.8:g.13788309A>T	NCBI36
NG_013081.1:g.214281T>A
NG_013081.2:g.214281T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11692T>A MANE Select	ENSP00000265104.4:p.Leu3898Met
ENST00000681290.1:c.11647T>A	ENSP00000505288.1:p.Leu3883Met
ENST00000265104.4:c.11692T>A	ENSP00000265104.4:p.Leu3898Met
NM_001369.2:c.11692T>A	NP_001360.1:p.Leu3898Met
XM_005248262.2:c.11647T>A	XP_005248319.1:p.Leu3883Met
XM_005248262.3:c.11800T>A	XP_005248319.2:p.Leu3934Met
XM_017009177.1:c.11800T>A	XP_016864666.1:p.Leu3934Met
XM_017009178.1:c.10705T>A	XP_016864667.1:p.Leu3569Met
XM_017009179.2:c.10705T>A	XP_016864668.1:p.Leu3569Met
XM_017009180.1:c.11800T>A	XP_016864669.1:p.Leu3934Met
XM_017009181.1:c.11800T>A	XP_016864670.1:p.Leu3934Met
XM_017009185.1:c.6889T>A	XP_016864674.1:p.Leu2297Met
XM_017009186.1:c.6442T>A	XP_016864675.1:p.Leu2148Met
XM_017009188.1:c.5779T>A	XP_016864677.1:p.Leu1927Met
XM_024454388.1:c.10705T>A	XP_024310156.1:p.Leu3569Met
XM_024454389.1:c.10294T>A	XP_024310157.1:p.Leu3432Met
NM_001369.3:c.11692T>A MANE Select	NP_001360.1:p.Leu3898Met