Canonical Allele Identifier: CA113948727

Gene: DNAH5

Linked Data

• dbSNP Id: rs976623615
• gnomAD v3: 5-13780776-G-C
• gnomAD v4: 5-13780776-G-C
• MyVariant Identifiers: chr5:g.13780885G>C (hg19) ; chr5:g.13780776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780776G>C , CM000667.2:g.13780776G>C	GRCh38
NC_000005.9:g.13780885G>C , CM000667.1:g.13780885G>C	GRCh37
NC_000005.8:g.13833885G>C	NCBI36
NG_013081.1:g.168705C>G
NG_013081.2:g.168705C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8951+53C>G MANE Select	ENSP00000265104.4:n.8951+53C>G
ENST00000681290.1:c.8906+53C>G	ENSP00000505288.1:n.8906+53C>G
ENST00000265104.4:c.8951+53C>G	ENSP00000265104.4:n.8951+53C>G
NM_001369.2:c.8951+53C>G	NP_001360.1:n.8951+53C>G
XM_005248262.2:c.8906+53C>G	XP_005248319.1:n.8906+53C>G
XM_011513990.1:c.8951+53C>G	XP_011512292.1:n.8951+53C>G
XR_925598.1:n.9028-3421C>G
XM_005248262.3:c.9059+53C>G	XP_005248319.2:n.9059+53C>G
XM_017009177.1:c.9059+53C>G	XP_016864666.1:n.9059+53C>G
XM_017009178.1:c.7964+53C>G	XP_016864667.1:n.7964+53C>G
XM_017009179.2:c.7964+53C>G	XP_016864668.1:n.7964+53C>G
XM_017009180.1:c.9059+53C>G	XP_016864669.1:n.9059+53C>G
XM_017009181.1:c.9059+53C>G	XP_016864670.1:n.9059+53C>G
XM_017009182.1:c.9059+53C>G	XP_016864671.1:n.9059+53C>G
XM_017009183.1:c.9059+53C>G	XP_016864672.1:n.9059+53C>G
XM_017009184.1:c.9059+53C>G	XP_016864673.1:n.9059+53C>G
XM_017009185.1:c.4148+53C>G	XP_016864674.1:n.4148+53C>G
XM_017009186.1:c.3701+53C>G	XP_016864675.1:n.3701+53C>G
XM_017009188.1:c.3038+53C>G	XP_016864677.1:n.3038+53C>G
XM_024454388.1:c.7964+53C>G	XP_024310156.1:n.7964+53C>G
XM_024454389.1:c.7553+53C>G	XP_024310157.1:n.7553+53C>G
XR_001742034.1:n.8946-3421C>G
XR_001742035.1:n.8946-3421C>G
NM_001369.3:c.8951+53C>G MANE Select	NP_001360.1:n.8951+53C>G