Canonical Allele Identifier: CA359188716

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692209A>T (hg19) ; chr5:g.13692100A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692100A>T , CM000667.2:g.13692100A>T	GRCh38
NC_000005.9:g.13692209A>T , CM000667.1:g.13692209A>T	GRCh37
NC_000005.8:g.13745209A>T	NCBI36
NG_013081.1:g.257381T>A
NG_013081.2:g.257381T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1092T>A
ENST00000265104.5:c.13759T>A MANE Select	ENSP00000265104.4:p.Tyr4587Asn
ENST00000681290.1:c.13714T>A	ENSP00000505288.1:p.Tyr4572Asn
ENST00000265104.4:c.13759T>A	ENSP00000265104.4:p.Tyr4587Asn
NM_001369.2:c.13759T>A	NP_001360.1:p.Tyr4587Asn
XM_005248262.2:c.13714T>A	XP_005248319.1:p.Tyr4572Asn
XM_005248262.3:c.13867T>A	XP_005248319.2:p.Tyr4623Asn
XM_017009177.1:c.13447T>A	XP_016864666.1:p.Tyr4483Asn
XM_017009178.1:c.12772T>A	XP_016864667.1:p.Tyr4258Asn
XM_017009179.2:c.12772T>A	XP_016864668.1:p.Tyr4258Asn
XM_017009185.1:c.8956T>A	XP_016864674.1:p.Tyr2986Asn
XM_017009186.1:c.8509T>A	XP_016864675.1:p.Tyr2837Asn
XM_017009188.1:c.7846T>A	XP_016864677.1:p.Tyr2616Asn
XM_024454388.1:c.12772T>A	XP_024310156.1:p.Tyr4258Asn
XM_024454389.1:c.12361T>A	XP_024310157.1:p.Tyr4121Asn
NM_001369.3:c.13759T>A MANE Select	NP_001360.1:p.Tyr4587Asn