Canonical Allele Identifier: CA359188610

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13692157C>G (hg19) ; chr5:g.13692048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692048C>G , CM000667.2:g.13692048C>G	GRCh38
NC_000005.9:g.13692157C>G , CM000667.1:g.13692157C>G	GRCh37
NC_000005.8:g.13745157C>G	NCBI36
NG_013081.1:g.257433G>C
NG_013081.2:g.257433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1144G>C
ENST00000265104.5:c.13811G>C MANE Select	ENSP00000265104.4:p.Arg4604Thr
ENST00000681290.1:c.13766G>C	ENSP00000505288.1:p.Arg4589Thr
ENST00000265104.4:c.13811G>C	ENSP00000265104.4:p.Arg4604Thr
NM_001369.2:c.13811G>C	NP_001360.1:p.Arg4604Thr
XM_005248262.2:c.13766G>C	XP_005248319.1:p.Arg4589Thr
XM_005248262.3:c.13919G>C	XP_005248319.2:p.Arg4640Thr
XM_017009177.1:c.13499G>C	XP_016864666.1:p.Arg4500Thr
XM_017009178.1:c.12824G>C	XP_016864667.1:p.Arg4275Thr
XM_017009179.2:c.12824G>C	XP_016864668.1:p.Arg4275Thr
XM_017009185.1:c.9008G>C	XP_016864674.1:p.Arg3003Thr
XM_017009186.1:c.8561G>C	XP_016864675.1:p.Arg2854Thr
XM_017009188.1:c.7898G>C	XP_016864677.1:p.Arg2633Thr
XM_024454388.1:c.12824G>C	XP_024310156.1:p.Arg4275Thr
XM_024454389.1:c.12413G>C	XP_024310157.1:p.Arg4138Thr
NM_001369.3:c.13811G>C MANE Select	NP_001360.1:p.Arg4604Thr