Canonical Allele Identifier: CA359188710

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692207A>C (hg19) ; chr5:g.13692098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692098A>C , CM000667.2:g.13692098A>C	GRCh38
NC_000005.9:g.13692207A>C , CM000667.1:g.13692207A>C	GRCh37
NC_000005.8:g.13745207A>C	NCBI36
NG_013081.1:g.257383T>G
NG_013081.2:g.257383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1094T>G
ENST00000265104.5:c.13761T>G MANE Select	ENSP00000265104.4:p.Tyr4587Ter
ENST00000681290.1:c.13716T>G	ENSP00000505288.1:p.Tyr4572Ter
ENST00000265104.4:c.13761T>G	ENSP00000265104.4:p.Tyr4587Ter
NM_001369.2:c.13761T>G	NP_001360.1:p.Tyr4587Ter
XM_005248262.2:c.13716T>G	XP_005248319.1:p.Tyr4572Ter
XM_005248262.3:c.13869T>G	XP_005248319.2:p.Tyr4623Ter
XM_017009177.1:c.13449T>G	XP_016864666.1:p.Tyr4483Ter
XM_017009178.1:c.12774T>G	XP_016864667.1:p.Tyr4258Ter
XM_017009179.2:c.12774T>G	XP_016864668.1:p.Tyr4258Ter
XM_017009185.1:c.8958T>G	XP_016864674.1:p.Tyr2986Ter
XM_017009186.1:c.8511T>G	XP_016864675.1:p.Tyr2837Ter
XM_017009188.1:c.7848T>G	XP_016864677.1:p.Tyr2616Ter
XM_024454388.1:c.12774T>G	XP_024310156.1:p.Tyr4258Ter
XM_024454389.1:c.12363T>G	XP_024310157.1:p.Tyr4121Ter
NM_001369.3:c.13761T>G MANE Select	NP_001360.1:p.Tyr4587Ter