Canonical Allele Identifier: CA359197457

Gene: DNAH5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.537A>G
ENST00000265104.5:c.13204A>G MANE Select	ENSP00000265104.4:p.Arg4402Gly
ENST00000681290.1:c.13159A>G	ENSP00000505288.1:p.Arg4387Gly
ENST00000265104.4:c.13204A>G	ENSP00000265104.4:p.Arg4402Gly
NM_001369.2:c.13204A>G	NP_001360.1:p.Arg4402Gly
XM_005248262.2:c.13159A>G	XP_005248319.1:p.Arg4387Gly
XM_005248262.3:c.13312A>G	XP_005248319.2:p.Arg4438Gly
XM_017009177.1:c.12892A>G	XP_016864666.1:p.Arg4298Gly
XM_017009178.1:c.12217A>G	XP_016864667.1:p.Arg4073Gly
XM_017009179.2:c.12217A>G	XP_016864668.1:p.Arg4073Gly
XM_017009185.1:c.8401A>G	XP_016864674.1:p.Arg2801Gly
XM_017009186.1:c.7954A>G	XP_016864675.1:p.Arg2652Gly
XM_017009188.1:c.7291A>G	XP_016864677.1:p.Arg2431Gly
XM_024454388.1:c.12217A>G	XP_024310156.1:p.Arg4073Gly
XM_024454389.1:c.11806A>G	XP_024310157.1:p.Arg3936Gly
NM_001369.3:c.13204A>G MANE Select	NP_001360.1:p.Arg4402Gly