Canonical Allele Identifier: CA359202466

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769237T>G (hg19) ; chr5:g.13769128T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769128T>G , CM000667.2:g.13769128T>G	GRCh38
NC_000005.9:g.13769237T>G , CM000667.1:g.13769237T>G	GRCh37
NC_000005.8:g.13822237T>G	NCBI36
NG_013081.1:g.180353A>C
NG_013081.2:g.180353A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9729A>C MANE Select	ENSP00000265104.4:p.Lys3243Asn
ENST00000681290.1:c.9684A>C	ENSP00000505288.1:p.Lys3228Asn
ENST00000265104.4:c.9729A>C	ENSP00000265104.4:p.Lys3243Asn
ENST00000504001.3:n.441A>C
NM_001369.2:c.9729A>C	NP_001360.1:p.Lys3243Asn
XM_005248262.2:c.9684A>C	XP_005248319.1:p.Lys3228Asn
XM_005248262.3:c.9837A>C	XP_005248319.2:p.Lys3279Asn
XM_017009177.1:c.9837A>C	XP_016864666.1:p.Lys3279Asn
XM_017009178.1:c.8742A>C	XP_016864667.1:p.Lys2914Asn
XM_017009179.2:c.8742A>C	XP_016864668.1:p.Lys2914Asn
XM_017009180.1:c.9837A>C	XP_016864669.1:p.Lys3279Asn
XM_017009181.1:c.9837A>C	XP_016864670.1:p.Lys3279Asn
XM_017009182.1:c.9837A>C	XP_016864671.1:p.Lys3279Asn
XM_017009185.1:c.4926A>C	XP_016864674.1:p.Lys1642Asn
XM_017009186.1:c.4479A>C	XP_016864675.1:p.Lys1493Asn
XM_017009188.1:c.3816A>C	XP_016864677.1:p.Lys1272Asn
XM_024454388.1:c.8742A>C	XP_024310156.1:p.Lys2914Asn
XM_024454389.1:c.8331A>C	XP_024310157.1:p.Lys2777Asn
NM_001369.3:c.9729A>C MANE Select	NP_001360.1:p.Lys3243Asn