Canonical Allele Identifier: CA359208538

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1411300
• ClinVar RCV Id: RCV001920562
• dbSNP Id: rs1744470051
• gnomAD v4: 5-13717521-C-T
• MyVariant Identifiers: chr5:g.13717630C>T (hg19) ; chr5:g.13717521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717521C>T , CM000667.2:g.13717521C>T	GRCh38
NC_000005.9:g.13717630C>T , CM000667.1:g.13717630C>T	GRCh37
NC_000005.8:g.13770630C>T	NCBI36
NG_013081.1:g.231960G>A
NG_013081.2:g.231960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12500-1G>A MANE Select	ENSP00000265104.4:n.12500-1G>A
ENST00000681290.1:c.12455-1G>A	ENSP00000505288.1:n.12455-1G>A
ENST00000265104.4:c.12500-1G>A	ENSP00000265104.4:n.12500-1G>A
NM_001369.2:c.12500-1G>A	NP_001360.1:n.12500-1G>A
XM_005248262.2:c.12455-1G>A	XP_005248319.1:n.12455-1G>A
XM_005248262.3:c.12608-1G>A	XP_005248319.2:n.12608-1G>A
XM_017009177.1:c.12608-1G>A	XP_016864666.1:n.12608-1G>A
XM_017009178.1:c.11513-1G>A	XP_016864667.1:n.11513-1G>A
XM_017009179.2:c.11513-1G>A	XP_016864668.1:n.11513-1G>A
XM_017009180.1:c.12608-1G>A	XP_016864669.1:n.12608-1G>A
XM_017009185.1:c.7697-1G>A	XP_016864674.1:n.7697-1G>A
XM_017009186.1:c.7250-1G>A	XP_016864675.1:n.7250-1G>A
XM_017009188.1:c.6587-1G>A	XP_016864677.1:n.6587-1G>A
XM_024454388.1:c.11513-1G>A	XP_024310156.1:n.11513-1G>A
XM_024454389.1:c.11102-1G>A	XP_024310157.1:n.11102-1G>A
NM_001369.3:c.12500-1G>A MANE Select	NP_001360.1:n.12500-1G>A