Canonical Allele Identifier: CA443254356

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717430G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717321G>A , CM000667.2:g.13717321G>A	GRCh38
NC_000005.9:g.13717430G>A , CM000667.1:g.13717430G>A	GRCh37
NC_000005.8:g.13770430G>A	NCBI36
NG_013081.1:g.232160C>T
NG_013081.2:g.232160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12699C>T MANE Select	ENSP00000265104.4:p.Val4233=
ENST00000681290.1:c.12654C>T	ENSP00000505288.1:p.Val4218=
ENST00000265104.4:c.12699C>T	ENSP00000265104.4:p.Val4233=
NM_001369.2:c.12699C>T	NP_001360.1:p.Val4233=
XM_005248262.2:c.12654C>T	XP_005248319.1:p.Val4218=
XM_005248262.3:c.12807C>T	XP_005248319.2:p.Val4269=
XM_017009177.1:c.12807C>T	XP_016864666.1:p.Val4269=
XM_017009178.1:c.11712C>T	XP_016864667.1:p.Val3904=
XM_017009179.2:c.11712C>T	XP_016864668.1:p.Val3904=
XM_017009180.1:c.12807C>T	XP_016864669.1:p.Val4269=
XM_017009185.1:c.7896C>T	XP_016864674.1:p.Val2632=
XM_017009186.1:c.7449C>T	XP_016864675.1:p.Val2483=
XM_017009188.1:c.6786C>T	XP_016864677.1:p.Val2262=
XM_024454388.1:c.11712C>T	XP_024310156.1:p.Val3904=
XM_024454389.1:c.11301C>T	XP_024310157.1:p.Val3767=
NM_001369.3:c.12699C>T MANE Select	NP_001360.1:p.Val4233=