Canonical Allele Identifier: CA359225160

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13736016G>T (hg19) ; chr5:g.13735907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735907G>T , CM000667.2:g.13735907G>T	GRCh38
NC_000005.9:g.13736016G>T , CM000667.1:g.13736016G>T	GRCh37
NC_000005.8:g.13789016G>T	NCBI36
NG_013081.1:g.213574C>A
NG_013081.2:g.213574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11481C>A MANE Select	ENSP00000265104.4:p.Tyr3827Ter
ENST00000681290.1:c.11436C>A	ENSP00000505288.1:p.Tyr3812Ter
ENST00000265104.4:c.11481C>A	ENSP00000265104.4:p.Tyr3827Ter
NM_001369.2:c.11481C>A	NP_001360.1:p.Tyr3827Ter
XM_005248262.2:c.11436C>A	XP_005248319.1:p.Tyr3812Ter
XM_005248262.3:c.11589C>A	XP_005248319.2:p.Tyr3863Ter
XM_017009177.1:c.11589C>A	XP_016864666.1:p.Tyr3863Ter
XM_017009178.1:c.10494C>A	XP_016864667.1:p.Tyr3498Ter
XM_017009179.2:c.10494C>A	XP_016864668.1:p.Tyr3498Ter
XM_017009180.1:c.11589C>A	XP_016864669.1:p.Tyr3863Ter
XM_017009181.1:c.11589C>A	XP_016864670.1:p.Tyr3863Ter
XM_017009182.1:c.11345C>A	XP_016864671.1:p.Thr3782Asn
XM_017009185.1:c.6678C>A	XP_016864674.1:p.Tyr2226Ter
XM_017009186.1:c.6231C>A	XP_016864675.1:p.Tyr2077Ter
XM_017009188.1:c.5568C>A	XP_016864677.1:p.Tyr1856Ter
XM_024454388.1:c.10494C>A	XP_024310156.1:p.Tyr3498Ter
XM_024454389.1:c.10083C>A	XP_024310157.1:p.Tyr3361Ter
NM_001369.3:c.11481C>A MANE Select	NP_001360.1:p.Tyr3827Ter