Canonical Allele Identifier: CA359197453

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13708366T>A (hg19) ; chr5:g.13708257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708257T>A , CM000667.2:g.13708257T>A	GRCh38
NC_000005.9:g.13708366T>A , CM000667.1:g.13708366T>A	GRCh37
NC_000005.8:g.13761366T>A	NCBI36
NG_013081.1:g.241224A>T
NG_013081.2:g.241224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.537A>T
ENST00000265104.5:c.13204A>T MANE Select	ENSP00000265104.4:p.Arg4402Trp
ENST00000681290.1:c.13159A>T	ENSP00000505288.1:p.Arg4387Trp
ENST00000265104.4:c.13204A>T	ENSP00000265104.4:p.Arg4402Trp
NM_001369.2:c.13204A>T	NP_001360.1:p.Arg4402Trp
XM_005248262.2:c.13159A>T	XP_005248319.1:p.Arg4387Trp
XM_005248262.3:c.13312A>T	XP_005248319.2:p.Arg4438Trp
XM_017009177.1:c.12892A>T	XP_016864666.1:p.Arg4298Trp
XM_017009178.1:c.12217A>T	XP_016864667.1:p.Arg4073Trp
XM_017009179.2:c.12217A>T	XP_016864668.1:p.Arg4073Trp
XM_017009185.1:c.8401A>T	XP_016864674.1:p.Arg2801Trp
XM_017009186.1:c.7954A>T	XP_016864675.1:p.Arg2652Trp
XM_017009188.1:c.7291A>T	XP_016864677.1:p.Arg2431Trp
XM_024454388.1:c.12217A>T	XP_024310156.1:p.Arg4073Trp
XM_024454389.1:c.11806A>T	XP_024310157.1:p.Arg3936Trp
NM_001369.3:c.13204A>T MANE Select	NP_001360.1:p.Arg4402Trp