Canonical Allele Identifier: CA557877110

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1108246
• ClinVar RCV Id: RCV001433666
• dbSNP Id: rs1229365810
• gnomAD v2: 5-13919277-C-G
• gnomAD v4: 5-13919168-C-G
• MyVariant Identifiers: chr5:g.13919277C>G (hg19) ; chr5:g.13919168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919168C>G , CM000667.2:g.13919168C>G	GRCh38
NC_000005.9:g.13919277C>G , CM000667.1:g.13919277C>G	GRCh37
NC_000005.8:g.13972277C>G	NCBI36
NG_013081.1:g.30313G>C
NG_013081.2:g.30313G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+8G>C
ENST00000682376.1:n.1027G>C
ENST00000682586.1:n.1076G>C
ENST00000683011.1:n.914+8G>C
ENST00000683967.1:n.1074+8G>C
ENST00000684013.1:n.1074+8G>C
ENST00000684099.1:n.1070+8G>C
ENST00000265104.5:c.975+8G>C MANE Select	ENSP00000265104.4:n.975+8G>C
ENST00000680213.1:c.735+8G>C	ENSP00000506622.1:n.735+8G>C
ENST00000681290.1:c.930+8G>C	ENSP00000505288.1:n.930+8G>C
ENST00000265104.4:c.975+8G>C	ENSP00000265104.4:n.975+8G>C
ENST00000508040.1:n.1383+8G>C
NM_001369.2:c.975+8G>C	NP_001360.1:n.975+8G>C
XM_005248262.2:c.930+8G>C	XP_005248319.1:n.930+8G>C
XM_011513990.1:c.975+8G>C	XP_011512292.1:n.975+8G>C
XR_925598.1:n.1182+8G>C
XM_005248262.3:c.1083+8G>C	XP_005248319.2:n.1083+8G>C
XM_017009177.1:c.1083+8G>C	XP_016864666.1:n.1083+8G>C
XM_017009178.1:c.-13+8G>C	XP_016864667.1:n.-13+8G>C
XM_017009180.1:c.1083+8G>C	XP_016864669.1:n.1083+8G>C
XM_017009181.1:c.1083+8G>C	XP_016864670.1:n.1083+8G>C
XM_017009182.1:c.1083+8G>C	XP_016864671.1:n.1083+8G>C
XM_017009183.1:c.1083+8G>C	XP_016864672.1:n.1083+8G>C
XM_017009184.1:c.1083+8G>C	XP_016864673.1:n.1083+8G>C
XM_017009187.1:c.1083+8G>C	XP_016864676.1:n.1083+8G>C
XM_024454388.1:c.-1924G>C	XP_024310156.1:n.-1924G>C
XM_024454389.1:c.-985+8G>C	XP_024310157.1:n.-985+8G>C
XR_001742034.1:n.1100+8G>C
XR_001742035.1:n.1100+8G>C
NM_001369.3:c.975+8G>C MANE Select	NP_001360.1:n.975+8G>C