Canonical Allele Identifier: CA359202244

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769097-T-C
• MyVariant Identifiers: chr5:g.13769206T>C (hg19) ; chr5:g.13769097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769097T>C , CM000667.2:g.13769097T>C	GRCh38
NC_000005.9:g.13769206T>C , CM000667.1:g.13769206T>C	GRCh37
NC_000005.8:g.13822206T>C	NCBI36
NG_013081.1:g.180384A>G
NG_013081.2:g.180384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9760A>G MANE Select	ENSP00000265104.4:p.Lys3254Glu
ENST00000681290.1:c.9715A>G	ENSP00000505288.1:p.Lys3239Glu
ENST00000265104.4:c.9760A>G	ENSP00000265104.4:p.Lys3254Glu
ENST00000504001.3:n.472A>G
NM_001369.2:c.9760A>G	NP_001360.1:p.Lys3254Glu
XM_005248262.2:c.9715A>G	XP_005248319.1:p.Lys3239Glu
XM_005248262.3:c.9868A>G	XP_005248319.2:p.Lys3290Glu
XM_017009177.1:c.9868A>G	XP_016864666.1:p.Lys3290Glu
XM_017009178.1:c.8773A>G	XP_016864667.1:p.Lys2925Glu
XM_017009179.2:c.8773A>G	XP_016864668.1:p.Lys2925Glu
XM_017009180.1:c.9868A>G	XP_016864669.1:p.Lys3290Glu
XM_017009181.1:c.9868A>G	XP_016864670.1:p.Lys3290Glu
XM_017009182.1:c.9868A>G	XP_016864671.1:p.Lys3290Glu
XM_017009185.1:c.4957A>G	XP_016864674.1:p.Lys1653Glu
XM_017009186.1:c.4510A>G	XP_016864675.1:p.Lys1504Glu
XM_017009188.1:c.3847A>G	XP_016864677.1:p.Lys1283Glu
XM_024454388.1:c.8773A>G	XP_024310156.1:p.Lys2925Glu
XM_024454389.1:c.8362A>G	XP_024310157.1:p.Lys2788Glu
NM_001369.3:c.9760A>G MANE Select	NP_001360.1:p.Lys3254Glu