Canonical Allele Identifier: CA359202362

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769224T>G (hg19) ; chr5:g.13769115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769115T>G , CM000667.2:g.13769115T>G	GRCh38
NC_000005.9:g.13769224T>G , CM000667.1:g.13769224T>G	GRCh37
NC_000005.8:g.13822224T>G	NCBI36
NG_013081.1:g.180366A>C
NG_013081.2:g.180366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9742A>C MANE Select	ENSP00000265104.4:p.Lys3248Gln
ENST00000681290.1:c.9697A>C	ENSP00000505288.1:p.Lys3233Gln
ENST00000265104.4:c.9742A>C	ENSP00000265104.4:p.Lys3248Gln
ENST00000504001.3:n.454A>C
NM_001369.2:c.9742A>C	NP_001360.1:p.Lys3248Gln
XM_005248262.2:c.9697A>C	XP_005248319.1:p.Lys3233Gln
XM_005248262.3:c.9850A>C	XP_005248319.2:p.Lys3284Gln
XM_017009177.1:c.9850A>C	XP_016864666.1:p.Lys3284Gln
XM_017009178.1:c.8755A>C	XP_016864667.1:p.Lys2919Gln
XM_017009179.2:c.8755A>C	XP_016864668.1:p.Lys2919Gln
XM_017009180.1:c.9850A>C	XP_016864669.1:p.Lys3284Gln
XM_017009181.1:c.9850A>C	XP_016864670.1:p.Lys3284Gln
XM_017009182.1:c.9850A>C	XP_016864671.1:p.Lys3284Gln
XM_017009185.1:c.4939A>C	XP_016864674.1:p.Lys1647Gln
XM_017009186.1:c.4492A>C	XP_016864675.1:p.Lys1498Gln
XM_017009188.1:c.3829A>C	XP_016864677.1:p.Lys1277Gln
XM_024454388.1:c.8755A>C	XP_024310156.1:p.Lys2919Gln
XM_024454389.1:c.8344A>C	XP_024310157.1:p.Lys2782Gln
NM_001369.3:c.9742A>C MANE Select	NP_001360.1:p.Lys3248Gln