Canonical Allele Identifier: CA359201483

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769104T>G (hg19) ; chr5:g.13768995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768995T>G , CM000667.2:g.13768995T>G	GRCh38
NC_000005.9:g.13769104T>G , CM000667.1:g.13769104T>G	GRCh37
NC_000005.8:g.13822104T>G	NCBI36
NG_013081.1:g.180486A>C
NG_013081.2:g.180486A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9862A>C MANE Select	ENSP00000265104.4:p.Lys3288Gln
ENST00000681290.1:c.9817A>C	ENSP00000505288.1:p.Lys3273Gln
ENST00000265104.4:c.9862A>C	ENSP00000265104.4:p.Lys3288Gln
ENST00000504001.3:n.574A>C
NM_001369.2:c.9862A>C	NP_001360.1:p.Lys3288Gln
XM_005248262.2:c.9817A>C	XP_005248319.1:p.Lys3273Gln
XM_005248262.3:c.9970A>C	XP_005248319.2:p.Lys3324Gln
XM_017009177.1:c.9970A>C	XP_016864666.1:p.Lys3324Gln
XM_017009178.1:c.8875A>C	XP_016864667.1:p.Lys2959Gln
XM_017009179.2:c.8875A>C	XP_016864668.1:p.Lys2959Gln
XM_017009180.1:c.9970A>C	XP_016864669.1:p.Lys3324Gln
XM_017009181.1:c.9970A>C	XP_016864670.1:p.Lys3324Gln
XM_017009182.1:c.9970A>C	XP_016864671.1:p.Lys3324Gln
XM_017009185.1:c.5059A>C	XP_016864674.1:p.Lys1687Gln
XM_017009186.1:c.4612A>C	XP_016864675.1:p.Lys1538Gln
XM_017009188.1:c.3949A>C	XP_016864677.1:p.Lys1317Gln
XM_024454388.1:c.8875A>C	XP_024310156.1:p.Lys2959Gln
XM_024454389.1:c.8464A>C	XP_024310157.1:p.Lys2822Gln
NM_001369.3:c.9862A>C MANE Select	NP_001360.1:p.Lys3288Gln