Canonical Allele Identifier: CA443254997

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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