Canonical Allele Identifier: CA443248738

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692183C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692074C>T , CM000667.2:g.13692074C>T	GRCh38
NC_000005.9:g.13692183C>T , CM000667.1:g.13692183C>T	GRCh37
NC_000005.8:g.13745183C>T	NCBI36
NG_013081.1:g.257407G>A
NG_013081.2:g.257407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1118G>A
ENST00000265104.5:c.13785G>A MANE Select	ENSP00000265104.4:p.Leu4595=
ENST00000681290.1:c.13740G>A	ENSP00000505288.1:p.Leu4580=
ENST00000265104.4:c.13785G>A	ENSP00000265104.4:p.Leu4595=
NM_001369.2:c.13785G>A	NP_001360.1:p.Leu4595=
XM_005248262.2:c.13740G>A	XP_005248319.1:p.Leu4580=
XM_005248262.3:c.13893G>A	XP_005248319.2:p.Leu4631=
XM_017009177.1:c.13473G>A	XP_016864666.1:p.Leu4491=
XM_017009178.1:c.12798G>A	XP_016864667.1:p.Leu4266=
XM_017009179.2:c.12798G>A	XP_016864668.1:p.Leu4266=
XM_017009185.1:c.8982G>A	XP_016864674.1:p.Leu2994=
XM_017009186.1:c.8535G>A	XP_016864675.1:p.Leu2845=
XM_017009188.1:c.7872G>A	XP_016864677.1:p.Leu2624=
XM_024454388.1:c.12798G>A	XP_024310156.1:p.Leu4266=
XM_024454389.1:c.12387G>A	XP_024310157.1:p.Leu4129=
NM_001369.3:c.13785G>A MANE Select	NP_001360.1:p.Leu4595=