Canonical Allele Identifier: CA3201563

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1928835
• ClinVar RCV Id: RCV002614723
• dbSNP Id: rs779993876
• ExAC: 5:13717423 C / A
• gnomAD v2: 5-13717423-C-A
• gnomAD v4: 5-13717314-C-A
• COSMIC: COSM5615448
• MyVariant Identifiers: chr5:g.13717423C>A (hg19) ; chr5:g.13717314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717314C>A , CM000667.2:g.13717314C>A	GRCh38
NC_000005.9:g.13717423C>A , CM000667.1:g.13717423C>A	GRCh37
NC_000005.8:g.13770423C>A	NCBI36
NG_013081.1:g.232167G>T
NG_013081.2:g.232167G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12705+1G>T MANE Select	ENSP00000265104.4:n.12705+1G>T
ENST00000681290.1:c.12660+1G>T	ENSP00000505288.1:n.12660+1G>T
ENST00000265104.4:c.12705+1G>T	ENSP00000265104.4:n.12705+1G>T
NM_001369.2:c.12705+1G>T	NP_001360.1:n.12705+1G>T
XM_005248262.2:c.12660+1G>T	XP_005248319.1:n.12660+1G>T
XM_005248262.3:c.12813+1G>T	XP_005248319.2:n.12813+1G>T
XM_017009177.1:c.12813+1G>T	XP_016864666.1:n.12813+1G>T
XM_017009178.1:c.11718+1G>T	XP_016864667.1:n.11718+1G>T
XM_017009179.2:c.11718+1G>T	XP_016864668.1:n.11718+1G>T
XM_017009180.1:c.12813+1G>T	XP_016864669.1:n.12813+1G>T
XM_017009185.1:c.7902+1G>T	XP_016864674.1:n.7902+1G>T
XM_017009186.1:c.7455+1G>T	XP_016864675.1:n.7455+1G>T
XM_017009188.1:c.6792+1G>T	XP_016864677.1:n.6792+1G>T
XM_024454388.1:c.11718+1G>T	XP_024310156.1:n.11718+1G>T
XM_024454389.1:c.11307+1G>T	XP_024310157.1:n.11307+1G>T
NM_001369.3:c.12705+1G>T MANE Select	NP_001360.1:n.12705+1G>T