Canonical Allele Identifier: CA10620200

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351042
• ClinVar RCV Id: RCV000389128
• dbSNP Id: rs886059972
• gnomAD v2: 5-13753476-C-T
• gnomAD v3: 5-13753367-C-T
• gnomAD v4: 5-13753367-C-T
• MyVariant Identifiers: chr5:g.13753476C>T (hg19) ; chr5:g.13753367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753367C>T , CM000667.2:g.13753367C>T	GRCh38
NC_000005.9:g.13753476C>T , CM000667.1:g.13753476C>T	GRCh37
NC_000005.8:g.13806476C>T	NCBI36
NG_013081.1:g.196114G>A
NG_013081.2:g.196114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10738G>A MANE Select	ENSP00000265104.4:p.Gly3580Ser
ENST00000681290.1:c.10693G>A	ENSP00000505288.1:p.Gly3565Ser
ENST00000265104.4:c.10738G>A	ENSP00000265104.4:p.Gly3580Ser
NM_001369.2:c.10738G>A	NP_001360.1:p.Gly3580Ser
XM_005248262.2:c.10693G>A	XP_005248319.1:p.Gly3565Ser
XM_005248262.3:c.10846G>A	XP_005248319.2:p.Gly3616Ser
XM_017009177.1:c.10846G>A	XP_016864666.1:p.Gly3616Ser
XM_017009178.1:c.9751G>A	XP_016864667.1:p.Gly3251Ser
XM_017009179.2:c.9751G>A	XP_016864668.1:p.Gly3251Ser
XM_017009180.1:c.10846G>A	XP_016864669.1:p.Gly3616Ser
XM_017009181.1:c.10846G>A	XP_016864670.1:p.Gly3616Ser
XM_017009182.1:c.10846G>A	XP_016864671.1:p.Gly3616Ser
XM_017009185.1:c.5935G>A	XP_016864674.1:p.Gly1979Ser
XM_017009186.1:c.5488G>A	XP_016864675.1:p.Gly1830Ser
XM_017009188.1:c.4825G>A	XP_016864677.1:p.Gly1609Ser
XM_024454388.1:c.9751G>A	XP_024310156.1:p.Gly3251Ser
XM_024454389.1:c.9340G>A	XP_024310157.1:p.Gly3114Ser
NM_001369.3:c.10738G>A MANE Select	NP_001360.1:p.Gly3580Ser