Canonical Allele Identifier: CA3202835

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 655872
• ClinVar RCV Id: RCV000812139
• dbSNP Id: rs560398270
• ExAC: 5:13792168 G / A
• gnomAD v2: 5-13792168-G-A
• gnomAD v3: 5-13792059-G-A
• gnomAD v4: 5-13792059-G-A
• MyVariant Identifiers: chr5:g.13792168G>A (hg19) ; chr5:g.13792059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792059G>A , CM000667.2:g.13792059G>A	GRCh38
NC_000005.9:g.13792168G>A , CM000667.1:g.13792168G>A	GRCh37
NC_000005.8:g.13845168G>A	NCBI36
NG_013081.1:g.157422C>T
NG_013081.2:g.157422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8383C>T MANE Select	ENSP00000265104.4:p.Arg2795Ter
ENST00000681290.1:c.8338C>T	ENSP00000505288.1:p.Arg2780Ter
ENST00000265104.4:c.8383C>T	ENSP00000265104.4:p.Arg2795Ter
NM_001369.2:c.8383C>T	NP_001360.1:p.Arg2795Ter
XM_005248262.2:c.8338C>T	XP_005248319.1:p.Arg2780Ter
XM_011513990.1:c.8383C>T	XP_011512292.1:p.Arg2795Ter
XR_925598.1:n.8590C>T
XM_005248262.3:c.8491C>T	XP_005248319.2:p.Arg2831Ter
XM_017009177.1:c.8491C>T	XP_016864666.1:p.Arg2831Ter
XM_017009178.1:c.7396C>T	XP_016864667.1:p.Arg2466Ter
XM_017009179.2:c.7396C>T	XP_016864668.1:p.Arg2466Ter
XM_017009180.1:c.8491C>T	XP_016864669.1:p.Arg2831Ter
XM_017009181.1:c.8491C>T	XP_016864670.1:p.Arg2831Ter
XM_017009182.1:c.8491C>T	XP_016864671.1:p.Arg2831Ter
XM_017009183.1:c.8491C>T	XP_016864672.1:p.Arg2831Ter
XM_017009184.1:c.8491C>T	XP_016864673.1:p.Arg2831Ter
XM_017009185.1:c.3580C>T	XP_016864674.1:p.Arg1194Ter
XM_017009186.1:c.3133C>T	XP_016864675.1:p.Arg1045Ter
XM_017009188.1:c.2470C>T	XP_016864677.1:p.Arg824Ter
XM_024454388.1:c.7396C>T	XP_024310156.1:p.Arg2466Ter
XM_024454389.1:c.6985C>T	XP_024310157.1:p.Arg2329Ter
XR_001742034.1:n.8508C>T
XR_001742035.1:n.8508C>T
NM_001369.3:c.8383C>T MANE Select	NP_001360.1:p.Arg2795Ter