Canonical Allele Identifier: CA10622782

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351214
• ClinVar RCV Id: RCV000273143 ; RCV002061255
• dbSNP Id: rs886060014
• gnomAD v4: 5-13913938-G-A
• MyVariant Identifiers: chr5:g.13914047G>A (hg19) ; chr5:g.13913938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913938G>A , CM000667.2:g.13913938G>A	GRCh38
NC_000005.9:g.13914047G>A , CM000667.1:g.13914047G>A	GRCh37
NC_000005.8:g.13967047G>A	NCBI36
NG_013081.1:g.35543C>T
NG_013081.2:g.35543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1397C>T
ENST00000682376.1:n.5570C>T
ENST00000683011.1:n.1280C>T
ENST00000683967.1:n.3706C>T
ENST00000684013.1:n.2001C>T
ENST00000684099.1:n.1997C>T
ENST00000265104.5:c.1341C>T MANE Select	ENSP00000265104.4:p.His447=
ENST00000680213.1:c.1101C>T	ENSP00000506622.1:p.His367=
ENST00000681290.1:c.1296C>T	ENSP00000505288.1:p.His432=
ENST00000265104.4:c.1341C>T	ENSP00000265104.4:p.His447=
ENST00000508040.1:n.1749C>T
NM_001369.2:c.1341C>T	NP_001360.1:p.His447=
XM_005248262.2:c.1296C>T	XP_005248319.1:p.His432=
XM_011513990.1:c.1341C>T	XP_011512292.1:p.His447=
XR_925598.1:n.1548C>T
XM_005248262.3:c.1449C>T	XP_005248319.2:p.His483=
XM_017009177.1:c.1449C>T	XP_016864666.1:p.His483=
XM_017009178.1:c.354C>T	XP_016864667.1:p.His118=
XM_017009179.2:c.354C>T	XP_016864668.1:p.His118=
XM_017009180.1:c.1449C>T	XP_016864669.1:p.His483=
XM_017009181.1:c.1449C>T	XP_016864670.1:p.His483=
XM_017009182.1:c.1449C>T	XP_016864671.1:p.His483=
XM_017009183.1:c.1449C>T	XP_016864672.1:p.His483=
XM_017009184.1:c.1449C>T	XP_016864673.1:p.His483=
XM_017009187.1:c.1449C>T	XP_016864676.1:p.His483=
XM_024454388.1:c.354C>T	XP_024310156.1:p.His118=
XM_024454389.1:c.-58C>T	XP_024310157.1:n.-58C>T
XR_001742034.1:n.1466C>T
XR_001742035.1:n.1466C>T
NM_001369.3:c.1341C>T MANE Select	NP_001360.1:p.His447=