Canonical Allele Identifier: CA359220716

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13793626A>G (hg19) ; chr5:g.13793517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793517A>G , CM000667.2:g.13793517A>G	GRCh38
NC_000005.9:g.13793626A>G , CM000667.1:g.13793626A>G	GRCh37
NC_000005.8:g.13846626A>G	NCBI36
NG_013081.1:g.155964T>C
NG_013081.2:g.155964T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8222T>C MANE Select	ENSP00000265104.4:p.Phe2741Ser
ENST00000681290.1:c.8177T>C	ENSP00000505288.1:p.Phe2726Ser
ENST00000265104.4:c.8222T>C	ENSP00000265104.4:p.Phe2741Ser
NM_001369.2:c.8222T>C	NP_001360.1:p.Phe2741Ser
XM_005248262.2:c.8177T>C	XP_005248319.1:p.Phe2726Ser
XM_011513990.1:c.8222T>C	XP_011512292.1:p.Phe2741Ser
XR_925598.1:n.8429T>C
XM_005248262.3:c.8330T>C	XP_005248319.2:p.Phe2777Ser
XM_017009177.1:c.8330T>C	XP_016864666.1:p.Phe2777Ser
XM_017009178.1:c.7235T>C	XP_016864667.1:p.Phe2412Ser
XM_017009179.2:c.7235T>C	XP_016864668.1:p.Phe2412Ser
XM_017009180.1:c.8330T>C	XP_016864669.1:p.Phe2777Ser
XM_017009181.1:c.8330T>C	XP_016864670.1:p.Phe2777Ser
XM_017009182.1:c.8330T>C	XP_016864671.1:p.Phe2777Ser
XM_017009183.1:c.8330T>C	XP_016864672.1:p.Phe2777Ser
XM_017009184.1:c.8330T>C	XP_016864673.1:p.Phe2777Ser
XM_017009185.1:c.3419T>C	XP_016864674.1:p.Phe1140Ser
XM_017009186.1:c.2972T>C	XP_016864675.1:p.Phe991Ser
XM_017009188.1:c.2309T>C	XP_016864677.1:p.Phe770Ser
XM_024454388.1:c.7235T>C	XP_024310156.1:p.Phe2412Ser
XM_024454389.1:c.6824T>C	XP_024310157.1:p.Phe2275Ser
XR_001742034.1:n.8347T>C
XR_001742035.1:n.8347T>C
NM_001369.3:c.8222T>C MANE Select	NP_001360.1:p.Phe2741Ser