Canonical Allele Identifier: CA359192126

Gene: DNAH5

Linked Data

• dbSNP Id: rs1392491656
• gnomAD v2: 5-13753593-G-C
• gnomAD v4: 5-13753484-G-C
• MyVariant Identifiers: chr5:g.13753593G>C (hg19) ; chr5:g.13753484G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10621C>G MANE Select	ENSP00000265104.4:p.Leu3541Val
ENST00000681290.1:c.10576C>G	ENSP00000505288.1:p.Leu3526Val
ENST00000265104.4:c.10621C>G	ENSP00000265104.4:p.Leu3541Val
NM_001369.2:c.10621C>G	NP_001360.1:p.Leu3541Val
XM_005248262.2:c.10576C>G	XP_005248319.1:p.Leu3526Val
XM_005248262.3:c.10729C>G	XP_005248319.2:p.Leu3577Val
XM_017009177.1:c.10729C>G	XP_016864666.1:p.Leu3577Val
XM_017009178.1:c.9634C>G	XP_016864667.1:p.Leu3212Val
XM_017009179.2:c.9634C>G	XP_016864668.1:p.Leu3212Val
XM_017009180.1:c.10729C>G	XP_016864669.1:p.Leu3577Val
XM_017009181.1:c.10729C>G	XP_016864670.1:p.Leu3577Val
XM_017009182.1:c.10729C>G	XP_016864671.1:p.Leu3577Val
XM_017009185.1:c.5818C>G	XP_016864674.1:p.Leu1940Val
XM_017009186.1:c.5371C>G	XP_016864675.1:p.Leu1791Val
XM_017009188.1:c.4708C>G	XP_016864677.1:p.Leu1570Val
XM_024454388.1:c.9634C>G	XP_024310156.1:p.Leu3212Val
XM_024454389.1:c.9223C>G	XP_024310157.1:p.Leu3075Val
NM_001369.3:c.10621C>G MANE Select	NP_001360.1:p.Leu3541Val