Canonical Allele Identifier: CA3202582

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2851368
• ClinVar RCV Id: RCV003652658
• dbSNP Id: rs770347405
• ExAC: 5:13776600 T / C
• gnomAD v2: 5-13776600-T-C
• gnomAD v4: 5-13776491-T-C
• MyVariant Identifiers: chr5:g.13776600T>C (hg19) ; chr5:g.13776491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776491T>C , CM000667.2:g.13776491T>C	GRCh38
NC_000005.9:g.13776600T>C , CM000667.1:g.13776600T>C	GRCh37
NC_000005.8:g.13829600T>C	NCBI36
NG_013081.1:g.172990A>G
NG_013081.2:g.172990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9321A>G MANE Select	ENSP00000265104.4:p.Ser3107=
ENST00000681290.1:c.9276A>G	ENSP00000505288.1:p.Ser3092=
ENST00000265104.4:c.9321A>G	ENSP00000265104.4:p.Ser3107=
NM_001369.2:c.9321A>G	NP_001360.1:p.Ser3107=
XM_005248262.2:c.9276A>G	XP_005248319.1:p.Ser3092=
XM_005248262.3:c.9429A>G	XP_005248319.2:p.Ser3143=
XM_017009177.1:c.9429A>G	XP_016864666.1:p.Ser3143=
XM_017009178.1:c.8334A>G	XP_016864667.1:p.Ser2778=
XM_017009179.2:c.8334A>G	XP_016864668.1:p.Ser2778=
XM_017009180.1:c.9429A>G	XP_016864669.1:p.Ser3143=
XM_017009181.1:c.9429A>G	XP_016864670.1:p.Ser3143=
XM_017009182.1:c.9429A>G	XP_016864671.1:p.Ser3143=
XM_017009183.1:c.9429A>G	XP_016864672.1:p.Ser3143=
XM_017009185.1:c.4518A>G	XP_016864674.1:p.Ser1506=
XM_017009186.1:c.4071A>G	XP_016864675.1:p.Ser1357=
XM_017009188.1:c.3408A>G	XP_016864677.1:p.Ser1136=
XM_024454388.1:c.8334A>G	XP_024310156.1:p.Ser2778=
XM_024454389.1:c.7923A>G	XP_024310157.1:p.Ser2641=
NM_001369.3:c.9321A>G MANE Select	NP_001360.1:p.Ser3107=