Canonical Allele Identifier: CA359223108

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13735321G>T (hg19) ; chr5:g.13735212G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735212G>T , CM000667.2:g.13735212G>T	GRCh38
NC_000005.9:g.13735321G>T , CM000667.1:g.13735321G>T	GRCh37
NC_000005.8:g.13788321G>T	NCBI36
NG_013081.1:g.214269C>A
NG_013081.2:g.214269C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11680C>A MANE Select	ENSP00000265104.4:p.Leu3894Met
ENST00000681290.1:c.11635C>A	ENSP00000505288.1:p.Leu3879Met
ENST00000265104.4:c.11680C>A	ENSP00000265104.4:p.Leu3894Met
NM_001369.2:c.11680C>A	NP_001360.1:p.Leu3894Met
XM_005248262.2:c.11635C>A	XP_005248319.1:p.Leu3879Met
XM_005248262.3:c.11788C>A	XP_005248319.2:p.Leu3930Met
XM_017009177.1:c.11788C>A	XP_016864666.1:p.Leu3930Met
XM_017009178.1:c.10693C>A	XP_016864667.1:p.Leu3565Met
XM_017009179.2:c.10693C>A	XP_016864668.1:p.Leu3565Met
XM_017009180.1:c.11788C>A	XP_016864669.1:p.Leu3930Met
XM_017009181.1:c.11788C>A	XP_016864670.1:p.Leu3930Met
XM_017009185.1:c.6877C>A	XP_016864674.1:p.Leu2293Met
XM_017009186.1:c.6430C>A	XP_016864675.1:p.Leu2144Met
XM_017009188.1:c.5767C>A	XP_016864677.1:p.Leu1923Met
XM_024454388.1:c.10693C>A	XP_024310156.1:p.Leu3565Met
XM_024454389.1:c.10282C>A	XP_024310157.1:p.Leu3428Met
NM_001369.3:c.11680C>A MANE Select	NP_001360.1:p.Leu3894Met