Canonical Allele Identifier: CA359197304

Gene: DNAH5

Linked Data

• dbSNP Id: rs1179101931
• gnomAD v2: 5-13708354-G-T
• MyVariant Identifiers: chr5:g.13708354G>T (hg19) ; chr5:g.13708245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708245G>T , CM000667.2:g.13708245G>T	GRCh38
NC_000005.9:g.13708354G>T , CM000667.1:g.13708354G>T	GRCh37
NC_000005.8:g.13761354G>T	NCBI36
NG_013081.1:g.241236C>A
NG_013081.2:g.241236C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.549C>A
ENST00000265104.5:c.13216C>A MANE Select	ENSP00000265104.4:p.Leu4406Ile
ENST00000681290.1:c.13171C>A	ENSP00000505288.1:p.Leu4391Ile
ENST00000265104.4:c.13216C>A	ENSP00000265104.4:p.Leu4406Ile
NM_001369.2:c.13216C>A	NP_001360.1:p.Leu4406Ile
XM_005248262.2:c.13171C>A	XP_005248319.1:p.Leu4391Ile
XM_005248262.3:c.13324C>A	XP_005248319.2:p.Leu4442Ile
XM_017009177.1:c.12904C>A	XP_016864666.1:p.Leu4302Ile
XM_017009178.1:c.12229C>A	XP_016864667.1:p.Leu4077Ile
XM_017009179.2:c.12229C>A	XP_016864668.1:p.Leu4077Ile
XM_017009185.1:c.8413C>A	XP_016864674.1:p.Leu2805Ile
XM_017009186.1:c.7966C>A	XP_016864675.1:p.Leu2656Ile
XM_017009188.1:c.7303C>A	XP_016864677.1:p.Leu2435Ile
XM_024454388.1:c.12229C>A	XP_024310156.1:p.Leu4077Ile
XM_024454389.1:c.11818C>A	XP_024310157.1:p.Leu3940Ile
NM_001369.3:c.13216C>A MANE Select	NP_001360.1:p.Leu4406Ile