Canonical Allele Identifier: CA359196986

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708321C>T (hg19) ; chr5:g.13708212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708212C>T , CM000667.2:g.13708212C>T	GRCh38
NC_000005.9:g.13708321C>T , CM000667.1:g.13708321C>T	GRCh37
NC_000005.8:g.13761321C>T	NCBI36
NG_013081.1:g.241269G>A
NG_013081.2:g.241269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.582G>A
ENST00000265104.5:c.13249G>A MANE Select	ENSP00000265104.4:p.Ala4417Thr
ENST00000681290.1:c.13204G>A	ENSP00000505288.1:p.Ala4402Thr
ENST00000265104.4:c.13249G>A	ENSP00000265104.4:p.Ala4417Thr
NM_001369.2:c.13249G>A	NP_001360.1:p.Ala4417Thr
XM_005248262.2:c.13204G>A	XP_005248319.1:p.Ala4402Thr
XM_005248262.3:c.13357G>A	XP_005248319.2:p.Ala4453Thr
XM_017009177.1:c.12937G>A	XP_016864666.1:p.Ala4313Thr
XM_017009178.1:c.12262G>A	XP_016864667.1:p.Ala4088Thr
XM_017009179.2:c.12262G>A	XP_016864668.1:p.Ala4088Thr
XM_017009185.1:c.8446G>A	XP_016864674.1:p.Ala2816Thr
XM_017009186.1:c.7999G>A	XP_016864675.1:p.Ala2667Thr
XM_017009188.1:c.7336G>A	XP_016864677.1:p.Ala2446Thr
XM_024454388.1:c.12262G>A	XP_024310156.1:p.Ala4088Thr
XM_024454389.1:c.11851G>A	XP_024310157.1:p.Ala3951Thr
NM_001369.3:c.13249G>A MANE Select	NP_001360.1:p.Ala4417Thr