Canonical Allele Identifier: CA359218755

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13919326C>T (hg19) ; chr5:g.13919217C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919217C>T , CM000667.2:g.13919217C>T	GRCh38
NC_000005.9:g.13919326C>T , CM000667.1:g.13919326C>T	GRCh37
NC_000005.8:g.13972326C>T	NCBI36
NG_013081.1:g.30264G>A
NG_013081.2:g.30264G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.990G>A
ENST00000682376.1:n.978G>A
ENST00000682586.1:n.1027G>A
ENST00000683011.1:n.873G>A
ENST00000683967.1:n.1033G>A
ENST00000684013.1:n.1033G>A
ENST00000684099.1:n.1029G>A
ENST00000265104.5:c.934G>A MANE Select	ENSP00000265104.4:p.Val312Met
ENST00000680213.1:c.694G>A	ENSP00000506622.1:p.Val232Met
ENST00000681290.1:c.889G>A	ENSP00000505288.1:p.Val297Met
ENST00000265104.4:c.934G>A	ENSP00000265104.4:p.Val312Met
ENST00000508040.1:n.1342G>A
NM_001369.2:c.934G>A	NP_001360.1:p.Val312Met
XM_005248262.2:c.889G>A	XP_005248319.1:p.Val297Met
XM_011513990.1:c.934G>A	XP_011512292.1:p.Val312Met
XR_925598.1:n.1141G>A
XM_005248262.3:c.1042G>A	XP_005248319.2:p.Val348Met
XM_017009177.1:c.1042G>A	XP_016864666.1:p.Val348Met
XM_017009178.1:c.-54G>A	XP_016864667.1:n.-54G>A
XM_017009180.1:c.1042G>A	XP_016864669.1:p.Val348Met
XM_017009181.1:c.1042G>A	XP_016864670.1:p.Val348Met
XM_017009182.1:c.1042G>A	XP_016864671.1:p.Val348Met
XM_017009183.1:c.1042G>A	XP_016864672.1:p.Val348Met
XM_017009184.1:c.1042G>A	XP_016864673.1:p.Val348Met
XM_017009187.1:c.1042G>A	XP_016864676.1:p.Val348Met
XM_024454388.1:c.-1973G>A	XP_024310156.1:n.-1973G>A
XM_024454389.1:c.-1026G>A	XP_024310157.1:n.-1026G>A
XR_001742034.1:n.1059G>A
XR_001742035.1:n.1059G>A
NM_001369.3:c.934G>A MANE Select	NP_001360.1:p.Val312Met