Canonical Allele Identifier: CA359197283

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708242-C-T
• MyVariant Identifiers: chr5:g.13708351C>T (hg19) ; chr5:g.13708242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708242C>T , CM000667.2:g.13708242C>T	GRCh38
NC_000005.9:g.13708351C>T , CM000667.1:g.13708351C>T	GRCh37
NC_000005.8:g.13761351C>T	NCBI36
NG_013081.1:g.241239G>A
NG_013081.2:g.241239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.552G>A
ENST00000265104.5:c.13219G>A MANE Select	ENSP00000265104.4:p.Val4407Ile
ENST00000681290.1:c.13174G>A	ENSP00000505288.1:p.Val4392Ile
ENST00000265104.4:c.13219G>A	ENSP00000265104.4:p.Val4407Ile
NM_001369.2:c.13219G>A	NP_001360.1:p.Val4407Ile
XM_005248262.2:c.13174G>A	XP_005248319.1:p.Val4392Ile
XM_005248262.3:c.13327G>A	XP_005248319.2:p.Val4443Ile
XM_017009177.1:c.12907G>A	XP_016864666.1:p.Val4303Ile
XM_017009178.1:c.12232G>A	XP_016864667.1:p.Val4078Ile
XM_017009179.2:c.12232G>A	XP_016864668.1:p.Val4078Ile
XM_017009185.1:c.8416G>A	XP_016864674.1:p.Val2806Ile
XM_017009186.1:c.7969G>A	XP_016864675.1:p.Val2657Ile
XM_017009188.1:c.7306G>A	XP_016864677.1:p.Val2436Ile
XM_024454388.1:c.12232G>A	XP_024310156.1:p.Val4078Ile
XM_024454389.1:c.11821G>A	XP_024310157.1:p.Val3941Ile
NM_001369.3:c.13219G>A MANE Select	NP_001360.1:p.Val4407Ile