Canonical Allele Identifier: CA359208070

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776583C>A (hg19) ; chr5:g.13776474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776474C>A , CM000667.2:g.13776474C>A	GRCh38
NC_000005.9:g.13776583C>A , CM000667.1:g.13776583C>A	GRCh37
NC_000005.8:g.13829583C>A	NCBI36
NG_013081.1:g.173007G>T
NG_013081.2:g.173007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9338G>T MANE Select	ENSP00000265104.4:p.Trp3113Leu
ENST00000681290.1:c.9293G>T	ENSP00000505288.1:p.Trp3098Leu
ENST00000265104.4:c.9338G>T	ENSP00000265104.4:p.Trp3113Leu
NM_001369.2:c.9338G>T	NP_001360.1:p.Trp3113Leu
XM_005248262.2:c.9293G>T	XP_005248319.1:p.Trp3098Leu
XM_005248262.3:c.9446G>T	XP_005248319.2:p.Trp3149Leu
XM_017009177.1:c.9446G>T	XP_016864666.1:p.Trp3149Leu
XM_017009178.1:c.8351G>T	XP_016864667.1:p.Trp2784Leu
XM_017009179.2:c.8351G>T	XP_016864668.1:p.Trp2784Leu
XM_017009180.1:c.9446G>T	XP_016864669.1:p.Trp3149Leu
XM_017009181.1:c.9446G>T	XP_016864670.1:p.Trp3149Leu
XM_017009182.1:c.9446G>T	XP_016864671.1:p.Trp3149Leu
XM_017009183.1:c.9446G>T	XP_016864672.1:p.Trp3149Leu
XM_017009185.1:c.4535G>T	XP_016864674.1:p.Trp1512Leu
XM_017009186.1:c.4088G>T	XP_016864675.1:p.Trp1363Leu
XM_017009188.1:c.3425G>T	XP_016864677.1:p.Trp1142Leu
XM_024454388.1:c.8351G>T	XP_024310156.1:p.Trp2784Leu
XM_024454389.1:c.7940G>T	XP_024310157.1:p.Trp2647Leu
NM_001369.3:c.9338G>T MANE Select	NP_001360.1:p.Trp3113Leu