Canonical Allele Identifier: CA359188541

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692125G>T (hg19) ; chr5:g.13692016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692016G>T , CM000667.2:g.13692016G>T	GRCh38
NC_000005.9:g.13692125G>T , CM000667.1:g.13692125G>T	GRCh37
NC_000005.8:g.13745125G>T	NCBI36
NG_013081.1:g.257465C>A
NG_013081.2:g.257465C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1176C>A
ENST00000265104.5:c.13843C>A MANE Select	ENSP00000265104.4:p.Arg4615Ser
ENST00000681290.1:c.13798C>A	ENSP00000505288.1:p.Arg4600Ser
ENST00000265104.4:c.13843C>A	ENSP00000265104.4:p.Arg4615Ser
NM_001369.2:c.13843C>A	NP_001360.1:p.Arg4615Ser
XM_005248262.2:c.13798C>A	XP_005248319.1:p.Arg4600Ser
XM_005248262.3:c.13951C>A	XP_005248319.2:p.Arg4651Ser
XM_017009177.1:c.13531C>A	XP_016864666.1:p.Arg4511Ser
XM_017009178.1:c.12856C>A	XP_016864667.1:p.Arg4286Ser
XM_017009179.2:c.12856C>A	XP_016864668.1:p.Arg4286Ser
XM_017009185.1:c.9040C>A	XP_016864674.1:p.Arg3014Ser
XM_017009186.1:c.8593C>A	XP_016864675.1:p.Arg2865Ser
XM_017009188.1:c.7930C>A	XP_016864677.1:p.Arg2644Ser
XM_024454388.1:c.12856C>A	XP_024310156.1:p.Arg4286Ser
XM_024454389.1:c.12445C>A	XP_024310157.1:p.Arg4149Ser
NM_001369.3:c.13843C>A MANE Select	NP_001360.1:p.Arg4615Ser