Canonical Allele Identifier: CA443254965

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13717613C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717504C>T , CM000667.2:g.13717504C>T	GRCh38
NC_000005.9:g.13717613C>T , CM000667.1:g.13717613C>T	GRCh37
NC_000005.8:g.13770613C>T	NCBI36
NG_013081.1:g.231977G>A
NG_013081.2:g.231977G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.12516G>A MANE Select	ENSP00000265104.4:p.Leu4172=
ENST00000681290.1:c.12471G>A	ENSP00000505288.1:p.Leu4157=
ENST00000265104.4:c.12516G>A	ENSP00000265104.4:p.Leu4172=
NM_001369.2:c.12516G>A	NP_001360.1:p.Leu4172=
XM_005248262.2:c.12471G>A	XP_005248319.1:p.Leu4157=
XM_005248262.3:c.12624G>A	XP_005248319.2:p.Leu4208=
XM_017009177.1:c.12624G>A	XP_016864666.1:p.Leu4208=
XM_017009178.1:c.11529G>A	XP_016864667.1:p.Leu3843=
XM_017009179.2:c.11529G>A	XP_016864668.1:p.Leu3843=
XM_017009180.1:c.12624G>A	XP_016864669.1:p.Leu4208=
XM_017009185.1:c.7713G>A	XP_016864674.1:p.Leu2571=
XM_017009186.1:c.7266G>A	XP_016864675.1:p.Leu2422=
XM_017009188.1:c.6603G>A	XP_016864677.1:p.Leu2201=
XM_024454388.1:c.11529G>A	XP_024310156.1:p.Leu3843=
XM_024454389.1:c.11118G>A	XP_024310157.1:p.Leu3706=
NM_001369.3:c.12516G>A MANE Select	NP_001360.1:p.Leu4172=