Canonical Allele Identifier: CA359209422

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13776753C>G (hg19) ; chr5:g.13776644C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776644C>G , CM000667.2:g.13776644C>G	GRCh38
NC_000005.9:g.13776753C>G , CM000667.1:g.13776753C>G	GRCh37
NC_000005.8:g.13829753C>G	NCBI36
NG_013081.1:g.172837G>C
NG_013081.2:g.172837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9168G>C MANE Select	ENSP00000265104.4:p.Met3056Ile
ENST00000681290.1:c.9123G>C	ENSP00000505288.1:p.Met3041Ile
ENST00000265104.4:c.9168G>C	ENSP00000265104.4:p.Met3056Ile
NM_001369.2:c.9168G>C	NP_001360.1:p.Met3056Ile
XM_005248262.2:c.9123G>C	XP_005248319.1:p.Met3041Ile
XM_011513990.1:c.*55G>C	XP_011512292.1:n.*55G>C
XR_925598.1:n.9239G>C
XM_005248262.3:c.9276G>C	XP_005248319.2:p.Met3092Ile
XM_017009177.1:c.9276G>C	XP_016864666.1:p.Met3092Ile
XM_017009178.1:c.8181G>C	XP_016864667.1:p.Met2727Ile
XM_017009179.2:c.8181G>C	XP_016864668.1:p.Met2727Ile
XM_017009180.1:c.9276G>C	XP_016864669.1:p.Met3092Ile
XM_017009181.1:c.9276G>C	XP_016864670.1:p.Met3092Ile
XM_017009182.1:c.9276G>C	XP_016864671.1:p.Met3092Ile
XM_017009183.1:c.9276G>C	XP_016864672.1:p.Met3092Ile
XM_017009184.1:c.*55G>C	XP_016864673.1:n.*55G>C
XM_017009185.1:c.4365G>C	XP_016864674.1:p.Met1455Ile
XM_017009186.1:c.3918G>C	XP_016864675.1:p.Met1306Ile
XM_017009188.1:c.3255G>C	XP_016864677.1:p.Met1085Ile
XM_024454388.1:c.8181G>C	XP_024310156.1:p.Met2727Ile
XM_024454389.1:c.7770G>C	XP_024310157.1:p.Met2590Ile
XR_001742034.1:n.9162G>C
XR_001742035.1:n.9157G>C
NM_001369.3:c.9168G>C MANE Select	NP_001360.1:p.Met3056Ile