Canonical Allele Identifier: CA443254994

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717625G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717516G>A , CM000667.2:g.13717516G>A	GRCh38
NC_000005.9:g.13717625G>A , CM000667.1:g.13717625G>A	GRCh37
NC_000005.8:g.13770625G>A	NCBI36
NG_013081.1:g.231965C>T
NG_013081.2:g.231965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12504C>T MANE Select	ENSP00000265104.4:p.Val4168=
ENST00000681290.1:c.12459C>T	ENSP00000505288.1:p.Val4153=
ENST00000265104.4:c.12504C>T	ENSP00000265104.4:p.Val4168=
NM_001369.2:c.12504C>T	NP_001360.1:p.Val4168=
XM_005248262.2:c.12459C>T	XP_005248319.1:p.Val4153=
XM_005248262.3:c.12612C>T	XP_005248319.2:p.Val4204=
XM_017009177.1:c.12612C>T	XP_016864666.1:p.Val4204=
XM_017009178.1:c.11517C>T	XP_016864667.1:p.Val3839=
XM_017009179.2:c.11517C>T	XP_016864668.1:p.Val3839=
XM_017009180.1:c.12612C>T	XP_016864669.1:p.Val4204=
XM_017009185.1:c.7701C>T	XP_016864674.1:p.Val2567=
XM_017009186.1:c.7254C>T	XP_016864675.1:p.Val2418=
XM_017009188.1:c.6591C>T	XP_016864677.1:p.Val2197=
XM_024454388.1:c.11517C>T	XP_024310156.1:p.Val3839=
XM_024454389.1:c.11106C>T	XP_024310157.1:p.Val3702=
NM_001369.3:c.12504C>T MANE Select	NP_001360.1:p.Val4168=