Canonical Allele Identifier: CA359196908

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708308G>T (hg19) ; chr5:g.13708199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708199G>T , CM000667.2:g.13708199G>T	GRCh38
NC_000005.9:g.13708308G>T , CM000667.1:g.13708308G>T	GRCh37
NC_000005.8:g.13761308G>T	NCBI36
NG_013081.1:g.241282C>A
NG_013081.2:g.241282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.595C>A
ENST00000265104.5:c.13262C>A MANE Select	ENSP00000265104.4:p.Thr4421Asn
ENST00000681290.1:c.13217C>A	ENSP00000505288.1:p.Thr4406Asn
ENST00000265104.4:c.13262C>A	ENSP00000265104.4:p.Thr4421Asn
NM_001369.2:c.13262C>A	NP_001360.1:p.Thr4421Asn
XM_005248262.2:c.13217C>A	XP_005248319.1:p.Thr4406Asn
XM_005248262.3:c.13370C>A	XP_005248319.2:p.Thr4457Asn
XM_017009177.1:c.12950C>A	XP_016864666.1:p.Thr4317Asn
XM_017009178.1:c.12275C>A	XP_016864667.1:p.Thr4092Asn
XM_017009179.2:c.12275C>A	XP_016864668.1:p.Thr4092Asn
XM_017009185.1:c.8459C>A	XP_016864674.1:p.Thr2820Asn
XM_017009186.1:c.8012C>A	XP_016864675.1:p.Thr2671Asn
XM_017009188.1:c.7349C>A	XP_016864677.1:p.Thr2450Asn
XM_024454388.1:c.12275C>A	XP_024310156.1:p.Thr4092Asn
XM_024454389.1:c.11864C>A	XP_024310157.1:p.Thr3955Asn
NM_001369.3:c.13262C>A MANE Select	NP_001360.1:p.Thr4421Asn