Canonical Allele Identifier: CA359202538

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769245C>T (hg19) ; chr5:g.13769136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769136C>T , CM000667.2:g.13769136C>T	GRCh38
NC_000005.9:g.13769245C>T , CM000667.1:g.13769245C>T	GRCh37
NC_000005.8:g.13822245C>T	NCBI36
NG_013081.1:g.180345G>A
NG_013081.2:g.180345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721G>A MANE Select	ENSP00000265104.4:p.Val3241Ile
ENST00000681290.1:c.9676G>A	ENSP00000505288.1:p.Val3226Ile
ENST00000265104.4:c.9721G>A	ENSP00000265104.4:p.Val3241Ile
ENST00000504001.3:n.433G>A
NM_001369.2:c.9721G>A	NP_001360.1:p.Val3241Ile
XM_005248262.2:c.9676G>A	XP_005248319.1:p.Val3226Ile
XM_005248262.3:c.9829G>A	XP_005248319.2:p.Val3277Ile
XM_017009177.1:c.9829G>A	XP_016864666.1:p.Val3277Ile
XM_017009178.1:c.8734G>A	XP_016864667.1:p.Val2912Ile
XM_017009179.2:c.8734G>A	XP_016864668.1:p.Val2912Ile
XM_017009180.1:c.9829G>A	XP_016864669.1:p.Val3277Ile
XM_017009181.1:c.9829G>A	XP_016864670.1:p.Val3277Ile
XM_017009182.1:c.9829G>A	XP_016864671.1:p.Val3277Ile
XM_017009185.1:c.4918G>A	XP_016864674.1:p.Val1640Ile
XM_017009186.1:c.4471G>A	XP_016864675.1:p.Val1491Ile
XM_017009188.1:c.3808G>A	XP_016864677.1:p.Val1270Ile
XM_024454388.1:c.8734G>A	XP_024310156.1:p.Val2912Ile
XM_024454389.1:c.8323G>A	XP_024310157.1:p.Val2775Ile
NM_001369.3:c.9721G>A MANE Select	NP_001360.1:p.Val3241Ile