Canonical Allele Identifier: CA359188799

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454730
• ClinVar RCV Id: RCV000559780
• dbSNP Id: rs1554033855
• MyVariant Identifiers: chr5:g.13751186C>T (hg19) ; chr5:g.13751077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751077C>T , CM000667.2:g.13751077C>T	GRCh38
NC_000005.9:g.13751186C>T , CM000667.1:g.13751186C>T	GRCh37
NC_000005.8:g.13804186C>T	NCBI36
NG_013081.1:g.198404G>A
NG_013081.2:g.198404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11211+1G>A MANE Select	ENSP00000265104.4:n.11211+1G>A
ENST00000681290.1:c.11166+1G>A	ENSP00000505288.1:n.11166+1G>A
ENST00000265104.4:c.11211+1G>A	ENSP00000265104.4:n.11211+1G>A
NM_001369.2:c.11211+1G>A	NP_001360.1:n.11211+1G>A
XM_005248262.2:c.11166+1G>A	XP_005248319.1:n.11166+1G>A
XM_005248262.3:c.11319+1G>A	XP_005248319.2:n.11319+1G>A
XM_017009177.1:c.11319+1G>A	XP_016864666.1:n.11319+1G>A
XM_017009178.1:c.10224+1G>A	XP_016864667.1:n.10224+1G>A
XM_017009179.2:c.10224+1G>A	XP_016864668.1:n.10224+1G>A
XM_017009180.1:c.11319+1G>A	XP_016864669.1:n.11319+1G>A
XM_017009181.1:c.11319+1G>A	XP_016864670.1:n.11319+1G>A
XM_017009182.1:c.11319+1G>A	XP_016864671.1:n.11319+1G>A
XM_017009185.1:c.6408+1G>A	XP_016864674.1:n.6408+1G>A
XM_017009186.1:c.5961+1G>A	XP_016864675.1:n.5961+1G>A
XM_017009188.1:c.5298+1G>A	XP_016864677.1:n.5298+1G>A
XM_024454388.1:c.10224+1G>A	XP_024310156.1:n.10224+1G>A
XM_024454389.1:c.9813+1G>A	XP_024310157.1:n.9813+1G>A
NM_001369.3:c.11211+1G>A MANE Select	NP_001360.1:n.11211+1G>A