Canonical Allele Identifier: CA3201581

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1662347
• ClinVar RCV Id: RCV002185666
• dbSNP Id: rs370958379
• ExAC: 5:13717502 G / A
• gnomAD v2: 5-13717502-G-A
• gnomAD v4: 5-13717393-G-A
• MyVariant Identifiers: chr5:g.13717502G>A (hg19) ; chr5:g.13717393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717393G>A , CM000667.2:g.13717393G>A	GRCh38
NC_000005.9:g.13717502G>A , CM000667.1:g.13717502G>A	GRCh37
NC_000005.8:g.13770502G>A	NCBI36
NG_013081.1:g.232088C>T
NG_013081.2:g.232088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12627C>T MANE Select	ENSP00000265104.4:p.Pro4209=
ENST00000681290.1:c.12582C>T	ENSP00000505288.1:p.Pro4194=
ENST00000265104.4:c.12627C>T	ENSP00000265104.4:p.Pro4209=
NM_001369.2:c.12627C>T	NP_001360.1:p.Pro4209=
XM_005248262.2:c.12582C>T	XP_005248319.1:p.Pro4194=
XM_005248262.3:c.12735C>T	XP_005248319.2:p.Pro4245=
XM_017009177.1:c.12735C>T	XP_016864666.1:p.Pro4245=
XM_017009178.1:c.11640C>T	XP_016864667.1:p.Pro3880=
XM_017009179.2:c.11640C>T	XP_016864668.1:p.Pro3880=
XM_017009180.1:c.12735C>T	XP_016864669.1:p.Pro4245=
XM_017009185.1:c.7824C>T	XP_016864674.1:p.Pro2608=
XM_017009186.1:c.7377C>T	XP_016864675.1:p.Pro2459=
XM_017009188.1:c.6714C>T	XP_016864677.1:p.Pro2238=
XM_024454388.1:c.11640C>T	XP_024310156.1:p.Pro3880=
XM_024454389.1:c.11229C>T	XP_024310157.1:p.Pro3743=
NM_001369.3:c.12627C>T MANE Select	NP_001360.1:p.Pro4209=