Canonical Allele Identifier: CA359197291

Gene: DNAH5

Linked Data

• dbSNP Id: rs1179101931
• gnomAD v4: 5-13708245-G-A
• MyVariant Identifiers: chr5:g.13708354G>A (hg19) ; chr5:g.13708245G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.549C>T
ENST00000265104.5:c.13216C>T MANE Select	ENSP00000265104.4:p.Leu4406Phe
ENST00000681290.1:c.13171C>T	ENSP00000505288.1:p.Leu4391Phe
ENST00000265104.4:c.13216C>T	ENSP00000265104.4:p.Leu4406Phe
NM_001369.2:c.13216C>T	NP_001360.1:p.Leu4406Phe
XM_005248262.2:c.13171C>T	XP_005248319.1:p.Leu4391Phe
XM_005248262.3:c.13324C>T	XP_005248319.2:p.Leu4442Phe
XM_017009177.1:c.12904C>T	XP_016864666.1:p.Leu4302Phe
XM_017009178.1:c.12229C>T	XP_016864667.1:p.Leu4077Phe
XM_017009179.2:c.12229C>T	XP_016864668.1:p.Leu4077Phe
XM_017009185.1:c.8413C>T	XP_016864674.1:p.Leu2805Phe
XM_017009186.1:c.7966C>T	XP_016864675.1:p.Leu2656Phe
XM_017009188.1:c.7303C>T	XP_016864677.1:p.Leu2435Phe
XM_024454388.1:c.12229C>T	XP_024310156.1:p.Leu4077Phe
XM_024454389.1:c.11818C>T	XP_024310157.1:p.Leu3940Phe
NM_001369.3:c.13216C>T MANE Select	NP_001360.1:p.Leu4406Phe