Canonical Allele Identifier: CA2673266108

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 3014264
• ClinVar RCV Id: RCV003875903
• gnomAD v4: 5-13692147-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692147A>G , CM000667.2:g.13692147A>G	GRCh38
NC_000005.9:g.13692256A>G , CM000667.1:g.13692256A>G	GRCh37
NC_000005.8:g.13745256A>G	NCBI36
NG_013081.1:g.257334T>C
NG_013081.2:g.257334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.1057-12T>C
ENST00000265104.5:c.13724-12T>C MANE Select	ENSP00000265104.4:n.13724-12T>C
ENST00000681290.1:c.13679-12T>C	ENSP00000505288.1:n.13679-12T>C
ENST00000265104.4:c.13724-12T>C	ENSP00000265104.4:n.13724-12T>C
NM_001369.2:c.13724-12T>C	NP_001360.1:n.13724-12T>C
XM_005248262.2:c.13679-12T>C	XP_005248319.1:n.13679-12T>C
XM_005248262.3:c.13832-12T>C	XP_005248319.2:n.13832-12T>C
XM_017009177.1:c.13412-12T>C	XP_016864666.1:n.13412-12T>C
XM_017009178.1:c.12737-12T>C	XP_016864667.1:n.12737-12T>C
XM_017009179.2:c.12737-12T>C	XP_016864668.1:n.12737-12T>C
XM_017009185.1:c.8921-12T>C	XP_016864674.1:n.8921-12T>C
XM_017009186.1:c.8474-12T>C	XP_016864675.1:n.8474-12T>C
XM_017009188.1:c.7811-12T>C	XP_016864677.1:n.7811-12T>C
XM_024454388.1:c.12737-12T>C	XP_024310156.1:n.12737-12T>C
XM_024454389.1:c.12326-12T>C	XP_024310157.1:n.12326-12T>C
NM_001369.3:c.13724-12T>C MANE Select	NP_001360.1:n.13724-12T>C