Canonical Allele Identifier: CA359204299

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770792-T-G
• MyVariant Identifiers: chr5:g.13770901T>G (hg19) ; chr5:g.13770792T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770792T>G , CM000667.2:g.13770792T>G	GRCh38
NC_000005.9:g.13770901T>G , CM000667.1:g.13770901T>G	GRCh37
NC_000005.8:g.13823901T>G	NCBI36
NG_013081.1:g.178689A>C
NG_013081.2:g.178689A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9562A>C MANE Select	ENSP00000265104.4:p.Ile3188Leu
ENST00000681290.1:c.9517A>C	ENSP00000505288.1:p.Ile3173Leu
ENST00000265104.4:c.9562A>C	ENSP00000265104.4:p.Ile3188Leu
ENST00000504001.3:n.274A>C
NM_001369.2:c.9562A>C	NP_001360.1:p.Ile3188Leu
XM_005248262.2:c.9517A>C	XP_005248319.1:p.Ile3173Leu
XM_005248262.3:c.9670A>C	XP_005248319.2:p.Ile3224Leu
XM_017009177.1:c.9670A>C	XP_016864666.1:p.Ile3224Leu
XM_017009178.1:c.8575A>C	XP_016864667.1:p.Ile2859Leu
XM_017009179.2:c.8575A>C	XP_016864668.1:p.Ile2859Leu
XM_017009180.1:c.9670A>C	XP_016864669.1:p.Ile3224Leu
XM_017009181.1:c.9670A>C	XP_016864670.1:p.Ile3224Leu
XM_017009182.1:c.9670A>C	XP_016864671.1:p.Ile3224Leu
XM_017009183.1:c.9670A>C	XP_016864672.1:p.Ile3224Leu
XM_017009185.1:c.4759A>C	XP_016864674.1:p.Ile1587Leu
XM_017009186.1:c.4312A>C	XP_016864675.1:p.Ile1438Leu
XM_017009188.1:c.3649A>C	XP_016864677.1:p.Ile1217Leu
XM_024454388.1:c.8575A>C	XP_024310156.1:p.Ile2859Leu
XM_024454389.1:c.8164A>C	XP_024310157.1:p.Ile2722Leu
NM_001369.3:c.9562A>C MANE Select	NP_001360.1:p.Ile3188Leu