Canonical Allele Identifier: CA3202097

Gene: DNAH5

Linked Data

• dbSNP Id: rs373433500
• ExAC: 5:13752355 T / A
• gnomAD v3: 5-13752246-T-A
• gnomAD v4: 5-13752246-T-A
• MyVariant Identifiers: chr5:g.13752355T>A (hg19) ; chr5:g.13752246T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752246T>A , CM000667.2:g.13752246T>A	GRCh38
NC_000005.9:g.13752355T>A , CM000667.1:g.13752355T>A	GRCh37
NC_000005.8:g.13805355T>A	NCBI36
NG_013081.1:g.197235A>T
NG_013081.2:g.197235A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10916A>T MANE Select	ENSP00000265104.4:p.Asp3639Val
ENST00000681290.1:c.10871A>T	ENSP00000505288.1:p.Asp3624Val
ENST00000265104.4:c.10916A>T	ENSP00000265104.4:p.Asp3639Val
NM_001369.2:c.10916A>T	NP_001360.1:p.Asp3639Val
XM_005248262.2:c.10871A>T	XP_005248319.1:p.Asp3624Val
XM_005248262.3:c.11024A>T	XP_005248319.2:p.Asp3675Val
XM_017009177.1:c.11024A>T	XP_016864666.1:p.Asp3675Val
XM_017009178.1:c.9929A>T	XP_016864667.1:p.Asp3310Val
XM_017009179.2:c.9929A>T	XP_016864668.1:p.Asp3310Val
XM_017009180.1:c.11024A>T	XP_016864669.1:p.Asp3675Val
XM_017009181.1:c.11024A>T	XP_016864670.1:p.Asp3675Val
XM_017009182.1:c.11024A>T	XP_016864671.1:p.Asp3675Val
XM_017009185.1:c.6113A>T	XP_016864674.1:p.Asp2038Val
XM_017009186.1:c.5666A>T	XP_016864675.1:p.Asp1889Val
XM_017009188.1:c.5003A>T	XP_016864677.1:p.Asp1668Val
XM_024454388.1:c.9929A>T	XP_024310156.1:p.Asp3310Val
XM_024454389.1:c.9518A>T	XP_024310157.1:p.Asp3173Val
NM_001369.3:c.10916A>T MANE Select	NP_001360.1:p.Asp3639Val