Canonical Allele Identifier: CA3201925

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 504724
• ClinVar RCV Id: RCV000606834 ; RCV000629643 ; RCV001155591 ; RCV003437299 ; RCV003915747
• dbSNP Id: rs369789559
• ExAC: 5:13735919 A / G
• gnomAD v2: 5-13735919-A-G
• gnomAD v3: 5-13735810-A-G
• gnomAD v4: 5-13735810-A-G
• MyVariant Identifiers: chr5:g.13735919A>G (hg19) ; chr5:g.13735810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735810A>G , CM000667.2:g.13735810A>G	GRCh38
NC_000005.9:g.13735919A>G , CM000667.1:g.13735919A>G	GRCh37
NC_000005.8:g.13788919A>G	NCBI36
NG_013081.1:g.213671T>C
NG_013081.2:g.213671T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11570+8T>C MANE Select	ENSP00000265104.4:n.11570+8T>C
ENST00000681290.1:c.11525+8T>C	ENSP00000505288.1:n.11525+8T>C
ENST00000265104.4:c.11570+8T>C	ENSP00000265104.4:n.11570+8T>C
NM_001369.2:c.11570+8T>C	NP_001360.1:n.11570+8T>C
XM_005248262.2:c.11525+8T>C	XP_005248319.1:n.11525+8T>C
XM_005248262.3:c.11678+8T>C	XP_005248319.2:n.11678+8T>C
XM_017009177.1:c.11678+8T>C	XP_016864666.1:n.11678+8T>C
XM_017009178.1:c.10583+8T>C	XP_016864667.1:n.10583+8T>C
XM_017009179.2:c.10583+8T>C	XP_016864668.1:n.10583+8T>C
XM_017009180.1:c.11678+8T>C	XP_016864669.1:n.11678+8T>C
XM_017009181.1:c.11678+8T>C	XP_016864670.1:n.11678+8T>C
XM_017009182.1:c.*4+8T>C	XP_016864671.1:n.*4+8T>C
XM_017009185.1:c.6767+8T>C	XP_016864674.1:n.6767+8T>C
XM_017009186.1:c.6320+8T>C	XP_016864675.1:n.6320+8T>C
XM_017009188.1:c.5657+8T>C	XP_016864677.1:n.5657+8T>C
XM_024454388.1:c.10583+8T>C	XP_024310156.1:n.10583+8T>C
XM_024454389.1:c.10172+8T>C	XP_024310157.1:n.10172+8T>C
NM_001369.3:c.11570+8T>C MANE Select	NP_001360.1:n.11570+8T>C