Canonical Allele Identifier: CA359190118

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13752319T>A (hg19) ; chr5:g.13752210T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752210T>A , CM000667.2:g.13752210T>A	GRCh38
NC_000005.9:g.13752319T>A , CM000667.1:g.13752319T>A	GRCh37
NC_000005.8:g.13805319T>A	NCBI36
NG_013081.1:g.197271A>T
NG_013081.2:g.197271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10952A>T MANE Select	ENSP00000265104.4:p.Asp3651Val
ENST00000681290.1:c.10907A>T	ENSP00000505288.1:p.Asp3636Val
ENST00000265104.4:c.10952A>T	ENSP00000265104.4:p.Asp3651Val
NM_001369.2:c.10952A>T	NP_001360.1:p.Asp3651Val
XM_005248262.2:c.10907A>T	XP_005248319.1:p.Asp3636Val
XM_005248262.3:c.11060A>T	XP_005248319.2:p.Asp3687Val
XM_017009177.1:c.11060A>T	XP_016864666.1:p.Asp3687Val
XM_017009178.1:c.9965A>T	XP_016864667.1:p.Asp3322Val
XM_017009179.2:c.9965A>T	XP_016864668.1:p.Asp3322Val
XM_017009180.1:c.11060A>T	XP_016864669.1:p.Asp3687Val
XM_017009181.1:c.11060A>T	XP_016864670.1:p.Asp3687Val
XM_017009182.1:c.11060A>T	XP_016864671.1:p.Asp3687Val
XM_017009185.1:c.6149A>T	XP_016864674.1:p.Asp2050Val
XM_017009186.1:c.5702A>T	XP_016864675.1:p.Asp1901Val
XM_017009188.1:c.5039A>T	XP_016864677.1:p.Asp1680Val
XM_024454388.1:c.9965A>T	XP_024310156.1:p.Asp3322Val
XM_024454389.1:c.9554A>T	XP_024310157.1:p.Asp3185Val
NM_001369.3:c.10952A>T MANE Select	NP_001360.1:p.Asp3651Val