Canonical Allele Identifier: CA359202335

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13769218G>T (hg19) ; chr5:g.13769109G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769109G>T , CM000667.2:g.13769109G>T	GRCh38
NC_000005.9:g.13769218G>T , CM000667.1:g.13769218G>T	GRCh37
NC_000005.8:g.13822218G>T	NCBI36
NG_013081.1:g.180372C>A
NG_013081.2:g.180372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9748C>A MANE Select	ENSP00000265104.4:p.Gln3250Lys
ENST00000681290.1:c.9703C>A	ENSP00000505288.1:p.Gln3235Lys
ENST00000265104.4:c.9748C>A	ENSP00000265104.4:p.Gln3250Lys
ENST00000504001.3:n.460C>A
NM_001369.2:c.9748C>A	NP_001360.1:p.Gln3250Lys
XM_005248262.2:c.9703C>A	XP_005248319.1:p.Gln3235Lys
XM_005248262.3:c.9856C>A	XP_005248319.2:p.Gln3286Lys
XM_017009177.1:c.9856C>A	XP_016864666.1:p.Gln3286Lys
XM_017009178.1:c.8761C>A	XP_016864667.1:p.Gln2921Lys
XM_017009179.2:c.8761C>A	XP_016864668.1:p.Gln2921Lys
XM_017009180.1:c.9856C>A	XP_016864669.1:p.Gln3286Lys
XM_017009181.1:c.9856C>A	XP_016864670.1:p.Gln3286Lys
XM_017009182.1:c.9856C>A	XP_016864671.1:p.Gln3286Lys
XM_017009185.1:c.4945C>A	XP_016864674.1:p.Gln1649Lys
XM_017009186.1:c.4498C>A	XP_016864675.1:p.Gln1500Lys
XM_017009188.1:c.3835C>A	XP_016864677.1:p.Gln1279Lys
XM_024454388.1:c.8761C>A	XP_024310156.1:p.Gln2921Lys
XM_024454389.1:c.8350C>A	XP_024310157.1:p.Gln2784Lys
NM_001369.3:c.9748C>A MANE Select	NP_001360.1:p.Gln3250Lys