Canonical Allele Identifier: CA359204124

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770758-A-G
• MyVariant Identifiers: chr5:g.13770867A>G (hg19) ; chr5:g.13770758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770758A>G , CM000667.2:g.13770758A>G	GRCh38
NC_000005.9:g.13770867A>G , CM000667.1:g.13770867A>G	GRCh37
NC_000005.8:g.13823867A>G	NCBI36
NG_013081.1:g.178723T>C
NG_013081.2:g.178723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9596T>C MANE Select	ENSP00000265104.4:p.Leu3199Pro
ENST00000681290.1:c.9551T>C	ENSP00000505288.1:p.Leu3184Pro
ENST00000265104.4:c.9596T>C	ENSP00000265104.4:p.Leu3199Pro
ENST00000504001.3:n.308T>C
NM_001369.2:c.9596T>C	NP_001360.1:p.Leu3199Pro
XM_005248262.2:c.9551T>C	XP_005248319.1:p.Leu3184Pro
XM_005248262.3:c.9704T>C	XP_005248319.2:p.Leu3235Pro
XM_017009177.1:c.9704T>C	XP_016864666.1:p.Leu3235Pro
XM_017009178.1:c.8609T>C	XP_016864667.1:p.Leu2870Pro
XM_017009179.2:c.8609T>C	XP_016864668.1:p.Leu2870Pro
XM_017009180.1:c.9704T>C	XP_016864669.1:p.Leu3235Pro
XM_017009181.1:c.9704T>C	XP_016864670.1:p.Leu3235Pro
XM_017009182.1:c.9704T>C	XP_016864671.1:p.Leu3235Pro
XM_017009183.1:c.9704T>C	XP_016864672.1:p.Leu3235Pro
XM_017009185.1:c.4793T>C	XP_016864674.1:p.Leu1598Pro
XM_017009186.1:c.4346T>C	XP_016864675.1:p.Leu1449Pro
XM_017009188.1:c.3683T>C	XP_016864677.1:p.Leu1228Pro
XM_024454388.1:c.8609T>C	XP_024310156.1:p.Leu2870Pro
XM_024454389.1:c.8198T>C	XP_024310157.1:p.Leu2733Pro
NM_001369.3:c.9596T>C MANE Select	NP_001360.1:p.Leu3199Pro