Canonical Allele Identifier: CA113917825

Gene: DNAH5

Linked Data

• dbSNP Id: rs267600359
• MyVariant Identifiers: chr5:g.13752359C>T (hg19) ; chr5:g.13752250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752250C>T , CM000667.2:g.13752250C>T	GRCh38
NC_000005.9:g.13752359C>T , CM000667.1:g.13752359C>T	GRCh37
NC_000005.8:g.13805359C>T	NCBI36
NG_013081.1:g.197231G>A
NG_013081.2:g.197231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10912G>A MANE Select	ENSP00000265104.4:p.Glu3638Lys
ENST00000681290.1:c.10867G>A	ENSP00000505288.1:p.Glu3623Lys
ENST00000265104.4:c.10912G>A	ENSP00000265104.4:p.Glu3638Lys
NM_001369.2:c.10912G>A	NP_001360.1:p.Glu3638Lys
XM_005248262.2:c.10867G>A	XP_005248319.1:p.Glu3623Lys
XM_005248262.3:c.11020G>A	XP_005248319.2:p.Glu3674Lys
XM_017009177.1:c.11020G>A	XP_016864666.1:p.Glu3674Lys
XM_017009178.1:c.9925G>A	XP_016864667.1:p.Glu3309Lys
XM_017009179.2:c.9925G>A	XP_016864668.1:p.Glu3309Lys
XM_017009180.1:c.11020G>A	XP_016864669.1:p.Glu3674Lys
XM_017009181.1:c.11020G>A	XP_016864670.1:p.Glu3674Lys
XM_017009182.1:c.11020G>A	XP_016864671.1:p.Glu3674Lys
XM_017009185.1:c.6109G>A	XP_016864674.1:p.Glu2037Lys
XM_017009186.1:c.5662G>A	XP_016864675.1:p.Glu1888Lys
XM_017009188.1:c.4999G>A	XP_016864677.1:p.Glu1667Lys
XM_024454388.1:c.9925G>A	XP_024310156.1:p.Glu3309Lys
XM_024454389.1:c.9514G>A	XP_024310157.1:p.Glu3172Lys
NM_001369.3:c.10912G>A MANE Select	NP_001360.1:p.Glu3638Lys