Canonical Allele Identifier: CA3201560

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2084468
• ClinVar RCV Id: RCV003011150
• dbSNP Id: rs765130526
• ExAC: 5:13717413 C / T
• gnomAD v2: 5-13717413-C-T
• gnomAD v3: 5-13717304-C-T
• gnomAD v4: 5-13717304-C-T
• MyVariant Identifiers: chr5:g.13717413C>T (hg19) ; chr5:g.13717304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717304C>T , CM000667.2:g.13717304C>T	GRCh38
NC_000005.9:g.13717413C>T , CM000667.1:g.13717413C>T	GRCh37
NC_000005.8:g.13770413C>T	NCBI36
NG_013081.1:g.232177G>A
NG_013081.2:g.232177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12705+11G>A MANE Select	ENSP00000265104.4:n.12705+11G>A
ENST00000681290.1:c.12660+11G>A	ENSP00000505288.1:n.12660+11G>A
ENST00000265104.4:c.12705+11G>A	ENSP00000265104.4:n.12705+11G>A
NM_001369.2:c.12705+11G>A	NP_001360.1:n.12705+11G>A
XM_005248262.2:c.12660+11G>A	XP_005248319.1:n.12660+11G>A
XM_005248262.3:c.12813+11G>A	XP_005248319.2:n.12813+11G>A
XM_017009177.1:c.12813+11G>A	XP_016864666.1:n.12813+11G>A
XM_017009178.1:c.11718+11G>A	XP_016864667.1:n.11718+11G>A
XM_017009179.2:c.11718+11G>A	XP_016864668.1:n.11718+11G>A
XM_017009180.1:c.12813+11G>A	XP_016864669.1:n.12813+11G>A
XM_017009185.1:c.7902+11G>A	XP_016864674.1:n.7902+11G>A
XM_017009186.1:c.7455+11G>A	XP_016864675.1:n.7455+11G>A
XM_017009188.1:c.6792+11G>A	XP_016864677.1:n.6792+11G>A
XM_024454388.1:c.11718+11G>A	XP_024310156.1:n.11718+11G>A
XM_024454389.1:c.11307+11G>A	XP_024310157.1:n.11307+11G>A
NM_001369.3:c.12705+11G>A MANE Select	NP_001360.1:n.12705+11G>A