Canonical Allele Identifier: CA3201939

Gene: DNAH5

Linked Data

• dbSNP Id: rs765905921
• ExAC: 5:13735998 C / T
• gnomAD v2: 5-13735998-C-T
• gnomAD v3: 5-13735889-C-T
• gnomAD v4: 5-13735889-C-T
• MyVariant Identifiers: chr5:g.13735998C>T (hg19) ; chr5:g.13735889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735889C>T , CM000667.2:g.13735889C>T	GRCh38
NC_000005.9:g.13735998C>T , CM000667.1:g.13735998C>T	GRCh37
NC_000005.8:g.13788998C>T	NCBI36
NG_013081.1:g.213592G>A
NG_013081.2:g.213592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11499G>A MANE Select	ENSP00000265104.4:p.Met3833Ile
ENST00000681290.1:c.11454G>A	ENSP00000505288.1:p.Met3818Ile
ENST00000265104.4:c.11499G>A	ENSP00000265104.4:p.Met3833Ile
NM_001369.2:c.11499G>A	NP_001360.1:p.Met3833Ile
XM_005248262.2:c.11454G>A	XP_005248319.1:p.Met3818Ile
XM_005248262.3:c.11607G>A	XP_005248319.2:p.Met3869Ile
XM_017009177.1:c.11607G>A	XP_016864666.1:p.Met3869Ile
XM_017009178.1:c.10512G>A	XP_016864667.1:p.Met3504Ile
XM_017009179.2:c.10512G>A	XP_016864668.1:p.Met3504Ile
XM_017009180.1:c.11607G>A	XP_016864669.1:p.Met3869Ile
XM_017009181.1:c.11607G>A	XP_016864670.1:p.Met3869Ile
XM_017009182.1:c.11363G>A	XP_016864671.1:p.Cys3788Tyr
XM_017009185.1:c.6696G>A	XP_016864674.1:p.Met2232Ile
XM_017009186.1:c.6249G>A	XP_016864675.1:p.Met2083Ile
XM_017009188.1:c.5586G>A	XP_016864677.1:p.Met1862Ile
XM_024454388.1:c.10512G>A	XP_024310156.1:p.Met3504Ile
XM_024454389.1:c.10101G>A	XP_024310157.1:p.Met3367Ile
NM_001369.3:c.11499G>A MANE Select	NP_001360.1:p.Met3833Ile