Canonical Allele Identifier: CA359204132

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13770870G>T (hg19) ; chr5:g.13770761G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770761G>T , CM000667.2:g.13770761G>T	GRCh38
NC_000005.9:g.13770870G>T , CM000667.1:g.13770870G>T	GRCh37
NC_000005.8:g.13823870G>T	NCBI36
NG_013081.1:g.178720C>A
NG_013081.2:g.178720C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9593C>A MANE Select	ENSP00000265104.4:p.Thr3198Asn
ENST00000681290.1:c.9548C>A	ENSP00000505288.1:p.Thr3183Asn
ENST00000265104.4:c.9593C>A	ENSP00000265104.4:p.Thr3198Asn
ENST00000504001.3:n.305C>A
NM_001369.2:c.9593C>A	NP_001360.1:p.Thr3198Asn
XM_005248262.2:c.9548C>A	XP_005248319.1:p.Thr3183Asn
XM_005248262.3:c.9701C>A	XP_005248319.2:p.Thr3234Asn
XM_017009177.1:c.9701C>A	XP_016864666.1:p.Thr3234Asn
XM_017009178.1:c.8606C>A	XP_016864667.1:p.Thr2869Asn
XM_017009179.2:c.8606C>A	XP_016864668.1:p.Thr2869Asn
XM_017009180.1:c.9701C>A	XP_016864669.1:p.Thr3234Asn
XM_017009181.1:c.9701C>A	XP_016864670.1:p.Thr3234Asn
XM_017009182.1:c.9701C>A	XP_016864671.1:p.Thr3234Asn
XM_017009183.1:c.9701C>A	XP_016864672.1:p.Thr3234Asn
XM_017009185.1:c.4790C>A	XP_016864674.1:p.Thr1597Asn
XM_017009186.1:c.4343C>A	XP_016864675.1:p.Thr1448Asn
XM_017009188.1:c.3680C>A	XP_016864677.1:p.Thr1227Asn
XM_024454388.1:c.8606C>A	XP_024310156.1:p.Thr2869Asn
XM_024454389.1:c.8195C>A	XP_024310157.1:p.Thr2732Asn
NM_001369.3:c.9593C>A MANE Select	NP_001360.1:p.Thr3198Asn