Canonical Allele Identifier: CA443254991

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717622G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717513G>A , CM000667.2:g.13717513G>A	GRCh38
NC_000005.9:g.13717622G>A , CM000667.1:g.13717622G>A	GRCh37
NC_000005.8:g.13770622G>A	NCBI36
NG_013081.1:g.231968C>T
NG_013081.2:g.231968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12507C>T MANE Select	ENSP00000265104.4:p.Ser4169=
ENST00000681290.1:c.12462C>T	ENSP00000505288.1:p.Ser4154=
ENST00000265104.4:c.12507C>T	ENSP00000265104.4:p.Ser4169=
NM_001369.2:c.12507C>T	NP_001360.1:p.Ser4169=
XM_005248262.2:c.12462C>T	XP_005248319.1:p.Ser4154=
XM_005248262.3:c.12615C>T	XP_005248319.2:p.Ser4205=
XM_017009177.1:c.12615C>T	XP_016864666.1:p.Ser4205=
XM_017009178.1:c.11520C>T	XP_016864667.1:p.Ser3840=
XM_017009179.2:c.11520C>T	XP_016864668.1:p.Ser3840=
XM_017009180.1:c.12615C>T	XP_016864669.1:p.Ser4205=
XM_017009185.1:c.7704C>T	XP_016864674.1:p.Ser2568=
XM_017009186.1:c.7257C>T	XP_016864675.1:p.Ser2419=
XM_017009188.1:c.6594C>T	XP_016864677.1:p.Ser2198=
XM_024454388.1:c.11520C>T	XP_024310156.1:p.Ser3840=
XM_024454389.1:c.11109C>T	XP_024310157.1:p.Ser3703=
NM_001369.3:c.12507C>T MANE Select	NP_001360.1:p.Ser4169=