Canonical Allele Identifier: CA359224574

Gene: DNAH5

Linked Data

• COSMIC: COSM3850354
• MyVariant Identifiers: chr5:g.13735943C>A (hg19) ; chr5:g.13735834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735834C>A , CM000667.2:g.13735834C>A	GRCh38
NC_000005.9:g.13735943C>A , CM000667.1:g.13735943C>A	GRCh37
NC_000005.8:g.13788943C>A	NCBI36
NG_013081.1:g.213647G>T
NG_013081.2:g.213647G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11554G>T MANE Select	ENSP00000265104.4:p.Asp3852Tyr
ENST00000681290.1:c.11509G>T	ENSP00000505288.1:p.Asp3837Tyr
ENST00000265104.4:c.11554G>T	ENSP00000265104.4:p.Asp3852Tyr
NM_001369.2:c.11554G>T	NP_001360.1:p.Asp3852Tyr
XM_005248262.2:c.11509G>T	XP_005248319.1:p.Asp3837Tyr
XM_005248262.3:c.11662G>T	XP_005248319.2:p.Asp3888Tyr
XM_017009177.1:c.11662G>T	XP_016864666.1:p.Asp3888Tyr
XM_017009178.1:c.10567G>T	XP_016864667.1:p.Asp3523Tyr
XM_017009179.2:c.10567G>T	XP_016864668.1:p.Asp3523Tyr
XM_017009180.1:c.11662G>T	XP_016864669.1:p.Asp3888Tyr
XM_017009181.1:c.11662G>T	XP_016864670.1:p.Asp3888Tyr
XM_017009182.1:c.11418G>T	XP_016864671.1:p.Leu3806Phe
XM_017009185.1:c.6751G>T	XP_016864674.1:p.Asp2251Tyr
XM_017009186.1:c.6304G>T	XP_016864675.1:p.Asp2102Tyr
XM_017009188.1:c.5641G>T	XP_016864677.1:p.Asp1881Tyr
XM_024454388.1:c.10567G>T	XP_024310156.1:p.Asp3523Tyr
XM_024454389.1:c.10156G>T	XP_024310157.1:p.Asp3386Tyr
NM_001369.3:c.11554G>T MANE Select	NP_001360.1:p.Asp3852Tyr