Canonical Allele Identifier: CA11995937

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1174030
• ClinVar RCV Id: RCV001527507 ; RCV001676021
• dbSNP Id: rs3734112
• gnomAD v2: 5-13701327-A-G
• gnomAD v3: 5-13701218-A-G
• gnomAD v4: 5-13701218-A-G
• MyVariant Identifiers: chr5:g.13701327A>G (hg19) ; chr5:g.13701218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701218A>G , CM000667.2:g.13701218A>G	GRCh38
NC_000005.9:g.13701327A>G , CM000667.1:g.13701327A>G	GRCh37
NC_000005.8:g.13754327A>G	NCBI36
NG_013081.1:g.248263T>C
NG_013081.2:g.248263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+66T>C
ENST00000265104.5:c.13491+66T>C MANE Select	ENSP00000265104.4:n.13491+66T>C
ENST00000681290.1:c.13446+66T>C	ENSP00000505288.1:n.13446+66T>C
ENST00000265104.4:c.13491+66T>C	ENSP00000265104.4:n.13491+66T>C
NM_001369.2:c.13491+66T>C	NP_001360.1:n.13491+66T>C
XM_005248262.2:c.13446+66T>C	XP_005248319.1:n.13446+66T>C
XM_005248262.3:c.13599+66T>C	XP_005248319.2:n.13599+66T>C
XM_017009177.1:c.13179+66T>C	XP_016864666.1:n.13179+66T>C
XM_017009178.1:c.12504+66T>C	XP_016864667.1:n.12504+66T>C
XM_017009179.2:c.12504+66T>C	XP_016864668.1:n.12504+66T>C
XM_017009185.1:c.8688+66T>C	XP_016864674.1:n.8688+66T>C
XM_017009186.1:c.8241+66T>C	XP_016864675.1:n.8241+66T>C
XM_017009188.1:c.7578+66T>C	XP_016864677.1:n.7578+66T>C
XM_024454388.1:c.12504+66T>C	XP_024310156.1:n.12504+66T>C
XM_024454389.1:c.12093+66T>C	XP_024310157.1:n.12093+66T>C
NM_001369.3:c.13491+66T>C MANE Select	NP_001360.1:n.13491+66T>C