Canonical Allele Identifier: CA359202399

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769229G>T (hg19) ; chr5:g.13769120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769120G>T , CM000667.2:g.13769120G>T	GRCh38
NC_000005.9:g.13769229G>T , CM000667.1:g.13769229G>T	GRCh37
NC_000005.8:g.13822229G>T	NCBI36
NG_013081.1:g.180361C>A
NG_013081.2:g.180361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9737C>A MANE Select	ENSP00000265104.4:p.Thr3246Lys
ENST00000681290.1:c.9692C>A	ENSP00000505288.1:p.Thr3231Lys
ENST00000265104.4:c.9737C>A	ENSP00000265104.4:p.Thr3246Lys
ENST00000504001.3:n.449C>A
NM_001369.2:c.9737C>A	NP_001360.1:p.Thr3246Lys
XM_005248262.2:c.9692C>A	XP_005248319.1:p.Thr3231Lys
XM_005248262.3:c.9845C>A	XP_005248319.2:p.Thr3282Lys
XM_017009177.1:c.9845C>A	XP_016864666.1:p.Thr3282Lys
XM_017009178.1:c.8750C>A	XP_016864667.1:p.Thr2917Lys
XM_017009179.2:c.8750C>A	XP_016864668.1:p.Thr2917Lys
XM_017009180.1:c.9845C>A	XP_016864669.1:p.Thr3282Lys
XM_017009181.1:c.9845C>A	XP_016864670.1:p.Thr3282Lys
XM_017009182.1:c.9845C>A	XP_016864671.1:p.Thr3282Lys
XM_017009185.1:c.4934C>A	XP_016864674.1:p.Thr1645Lys
XM_017009186.1:c.4487C>A	XP_016864675.1:p.Thr1496Lys
XM_017009188.1:c.3824C>A	XP_016864677.1:p.Thr1275Lys
XM_024454388.1:c.8750C>A	XP_024310156.1:p.Thr2917Lys
XM_024454389.1:c.8339C>A	XP_024310157.1:p.Thr2780Lys
NM_001369.3:c.9737C>A MANE Select	NP_001360.1:p.Thr3246Lys