Canonical Allele Identifier: CA359191285

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13753439A>C (hg19) ; chr5:g.13753330A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753330A>C , CM000667.2:g.13753330A>C	GRCh38
NC_000005.9:g.13753439A>C , CM000667.1:g.13753439A>C	GRCh37
NC_000005.8:g.13806439A>C	NCBI36
NG_013081.1:g.196151T>G
NG_013081.2:g.196151T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10775T>G MANE Select	ENSP00000265104.4:p.Ile3592Ser
ENST00000681290.1:c.10730T>G	ENSP00000505288.1:p.Ile3577Ser
ENST00000265104.4:c.10775T>G	ENSP00000265104.4:p.Ile3592Ser
NM_001369.2:c.10775T>G	NP_001360.1:p.Ile3592Ser
XM_005248262.2:c.10730T>G	XP_005248319.1:p.Ile3577Ser
XM_005248262.3:c.10883T>G	XP_005248319.2:p.Ile3628Ser
XM_017009177.1:c.10883T>G	XP_016864666.1:p.Ile3628Ser
XM_017009178.1:c.9788T>G	XP_016864667.1:p.Ile3263Ser
XM_017009179.2:c.9788T>G	XP_016864668.1:p.Ile3263Ser
XM_017009180.1:c.10883T>G	XP_016864669.1:p.Ile3628Ser
XM_017009181.1:c.10883T>G	XP_016864670.1:p.Ile3628Ser
XM_017009182.1:c.10883T>G	XP_016864671.1:p.Ile3628Ser
XM_017009185.1:c.5972T>G	XP_016864674.1:p.Ile1991Ser
XM_017009186.1:c.5525T>G	XP_016864675.1:p.Ile1842Ser
XM_017009188.1:c.4862T>G	XP_016864677.1:p.Ile1621Ser
XM_024454388.1:c.9788T>G	XP_024310156.1:p.Ile3263Ser
XM_024454389.1:c.9377T>G	XP_024310157.1:p.Ile3126Ser
NM_001369.3:c.10775T>G MANE Select	NP_001360.1:p.Ile3592Ser