Canonical Allele Identifier: CA443251317

Gene: DNAH5

Linked Data

• dbSNP Id: rs1321440496
• gnomAD v2: 5-13708364-C-T
• gnomAD v4: 5-13708255-C-T
• MyVariant Identifiers: chr5:g.13708364C>T (hg19) ; chr5:g.13708255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708255C>T , CM000667.2:g.13708255C>T	GRCh38
NC_000005.9:g.13708364C>T , CM000667.1:g.13708364C>T	GRCh37
NC_000005.8:g.13761364C>T	NCBI36
NG_013081.1:g.241226G>A
NG_013081.2:g.241226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.539G>A
ENST00000265104.5:c.13206G>A MANE Select	ENSP00000265104.4:p.Arg4402=
ENST00000681290.1:c.13161G>A	ENSP00000505288.1:p.Arg4387=
ENST00000265104.4:c.13206G>A	ENSP00000265104.4:p.Arg4402=
NM_001369.2:c.13206G>A	NP_001360.1:p.Arg4402=
XM_005248262.2:c.13161G>A	XP_005248319.1:p.Arg4387=
XM_005248262.3:c.13314G>A	XP_005248319.2:p.Arg4438=
XM_017009177.1:c.12894G>A	XP_016864666.1:p.Arg4298=
XM_017009178.1:c.12219G>A	XP_016864667.1:p.Arg4073=
XM_017009179.2:c.12219G>A	XP_016864668.1:p.Arg4073=
XM_017009185.1:c.8403G>A	XP_016864674.1:p.Arg2801=
XM_017009186.1:c.7956G>A	XP_016864675.1:p.Arg2652=
XM_017009188.1:c.7293G>A	XP_016864677.1:p.Arg2431=
XM_024454388.1:c.12219G>A	XP_024310156.1:p.Arg4073=
XM_024454389.1:c.11808G>A	XP_024310157.1:p.Arg3936=
NM_001369.3:c.13206G>A MANE Select	NP_001360.1:p.Arg4402=