Canonical Allele Identifier: CA359207940

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776461-C-T
• MyVariant Identifiers: chr5:g.13776570C>T (hg19) ; chr5:g.13776461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776461C>T , CM000667.2:g.13776461C>T	GRCh38
NC_000005.9:g.13776570C>T , CM000667.1:g.13776570C>T	GRCh37
NC_000005.8:g.13829570C>T	NCBI36
NG_013081.1:g.173020G>A
NG_013081.2:g.173020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9351G>A MANE Select	ENSP00000265104.4:p.Trp3117Ter
ENST00000681290.1:c.9306G>A	ENSP00000505288.1:p.Trp3102Ter
ENST00000265104.4:c.9351G>A	ENSP00000265104.4:p.Trp3117Ter
NM_001369.2:c.9351G>A	NP_001360.1:p.Trp3117Ter
XM_005248262.2:c.9306G>A	XP_005248319.1:p.Trp3102Ter
XM_005248262.3:c.9459G>A	XP_005248319.2:p.Trp3153Ter
XM_017009177.1:c.9459G>A	XP_016864666.1:p.Trp3153Ter
XM_017009178.1:c.8364G>A	XP_016864667.1:p.Trp2788Ter
XM_017009179.2:c.8364G>A	XP_016864668.1:p.Trp2788Ter
XM_017009180.1:c.9459G>A	XP_016864669.1:p.Trp3153Ter
XM_017009181.1:c.9459G>A	XP_016864670.1:p.Trp3153Ter
XM_017009182.1:c.9459G>A	XP_016864671.1:p.Trp3153Ter
XM_017009183.1:c.9459G>A	XP_016864672.1:p.Trp3153Ter
XM_017009185.1:c.4548G>A	XP_016864674.1:p.Trp1516Ter
XM_017009186.1:c.4101G>A	XP_016864675.1:p.Trp1367Ter
XM_017009188.1:c.3438G>A	XP_016864677.1:p.Trp1146Ter
XM_024454388.1:c.8364G>A	XP_024310156.1:p.Trp2788Ter
XM_024454389.1:c.7953G>A	XP_024310157.1:p.Trp2651Ter
NM_001369.3:c.9351G>A MANE Select	NP_001360.1:p.Trp3117Ter