Canonical Allele Identifier: CA359198282

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13762807A>G , CM000667.2:g.13762807A>G	GRCh38
NC_000005.9:g.13762916A>G , CM000667.1:g.13762916A>G	GRCh37
NC_000005.8:g.13815916A>G	NCBI36
NG_013081.1:g.186674T>C
NG_013081.2:g.186674T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10196T>C MANE Select	NP_001360.1:p.Val3399Ala
ENST00000265104.5:c.10196T>C MANE Select	ENSP00000265104.4:p.Val3399Ala
NM_001369.2:c.10196T>C	NP_001360.1:p.Val3399Ala
ENST00000265104.4:c.10196T>C	ENSP00000265104.4:p.Val3399Ala
ENST00000504001.3:n.704T>C
ENST00000681290.1:c.10151T>C	ENSP00000505288.1:p.Val3384Ala
XM_005248262.2:c.10151T>C	XP_005248319.1:p.Val3384Ala
XM_005248262.3:c.10304T>C	XP_005248319.2:p.Val3435Ala
XM_017009177.1:c.10304T>C	XP_016864666.1:p.Val3435Ala
XM_017009178.1:c.9209T>C	XP_016864667.1:p.Val3070Ala
XM_017009179.2:c.9209T>C	XP_016864668.1:p.Val3070Ala
XM_017009180.1:c.10304T>C	XP_016864669.1:p.Val3435Ala
XM_017009181.1:c.10304T>C	XP_016864670.1:p.Val3435Ala
XM_017009182.1:c.10304T>C	XP_016864671.1:p.Val3435Ala
XM_017009185.1:c.5393T>C	XP_016864674.1:p.Val1798Ala
XM_017009186.1:c.4946T>C	XP_016864675.1:p.Val1649Ala
XM_017009188.1:c.4283T>C	XP_016864677.1:p.Val1428Ala
XM_024454388.1:c.9209T>C	XP_024310156.1:p.Val3070Ala
XM_024454389.1:c.8798T>C	XP_024310157.1:p.Val2933Ala