Canonical Allele Identifier: CA359202496

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769241A>T (hg19) ; chr5:g.13769132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769132A>T , CM000667.2:g.13769132A>T	GRCh38
NC_000005.9:g.13769241A>T , CM000667.1:g.13769241A>T	GRCh37
NC_000005.8:g.13822241A>T	NCBI36
NG_013081.1:g.180349T>A
NG_013081.2:g.180349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9725T>A MANE Select	ENSP00000265104.4:p.Leu3242Ter
ENST00000681290.1:c.9680T>A	ENSP00000505288.1:p.Leu3227Ter
ENST00000265104.4:c.9725T>A	ENSP00000265104.4:p.Leu3242Ter
ENST00000504001.3:n.437T>A
NM_001369.2:c.9725T>A	NP_001360.1:p.Leu3242Ter
XM_005248262.2:c.9680T>A	XP_005248319.1:p.Leu3227Ter
XM_005248262.3:c.9833T>A	XP_005248319.2:p.Leu3278Ter
XM_017009177.1:c.9833T>A	XP_016864666.1:p.Leu3278Ter
XM_017009178.1:c.8738T>A	XP_016864667.1:p.Leu2913Ter
XM_017009179.2:c.8738T>A	XP_016864668.1:p.Leu2913Ter
XM_017009180.1:c.9833T>A	XP_016864669.1:p.Leu3278Ter
XM_017009181.1:c.9833T>A	XP_016864670.1:p.Leu3278Ter
XM_017009182.1:c.9833T>A	XP_016864671.1:p.Leu3278Ter
XM_017009185.1:c.4922T>A	XP_016864674.1:p.Leu1641Ter
XM_017009186.1:c.4475T>A	XP_016864675.1:p.Leu1492Ter
XM_017009188.1:c.3812T>A	XP_016864677.1:p.Leu1271Ter
XM_024454388.1:c.8738T>A	XP_024310156.1:p.Leu2913Ter
XM_024454389.1:c.8327T>A	XP_024310157.1:p.Leu2776Ter
NM_001369.3:c.9725T>A MANE Select	NP_001360.1:p.Leu3242Ter