Canonical Allele Identifier: CA3202179

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2040088
• ClinVar RCV Id: RCV002886247
• dbSNP Id: rs551148279
• ExAC: 5:13753654 A / G
• gnomAD v2: 5-13753654-A-G
• gnomAD v3: 5-13753545-A-G
• gnomAD v4: 5-13753545-A-G
• MyVariant Identifiers: chr5:g.13753654A>G (hg19) ; chr5:g.13753545A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753545A>G , CM000667.2:g.13753545A>G	GRCh38
NC_000005.9:g.13753654A>G , CM000667.1:g.13753654A>G	GRCh37
NC_000005.8:g.13806654A>G	NCBI36
NG_013081.1:g.195936T>C
NG_013081.2:g.195936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10560T>C MANE Select	ENSP00000265104.4:p.Asp3520=
ENST00000681290.1:c.10515T>C	ENSP00000505288.1:p.Asp3505=
ENST00000265104.4:c.10560T>C	ENSP00000265104.4:p.Asp3520=
NM_001369.2:c.10560T>C	NP_001360.1:p.Asp3520=
XM_005248262.2:c.10515T>C	XP_005248319.1:p.Asp3505=
XM_005248262.3:c.10668T>C	XP_005248319.2:p.Asp3556=
XM_017009177.1:c.10668T>C	XP_016864666.1:p.Asp3556=
XM_017009178.1:c.9573T>C	XP_016864667.1:p.Asp3191=
XM_017009179.2:c.9573T>C	XP_016864668.1:p.Asp3191=
XM_017009180.1:c.10668T>C	XP_016864669.1:p.Asp3556=
XM_017009181.1:c.10668T>C	XP_016864670.1:p.Asp3556=
XM_017009182.1:c.10668T>C	XP_016864671.1:p.Asp3556=
XM_017009185.1:c.5757T>C	XP_016864674.1:p.Asp1919=
XM_017009186.1:c.5310T>C	XP_016864675.1:p.Asp1770=
XM_017009188.1:c.4647T>C	XP_016864677.1:p.Asp1549=
XM_024454388.1:c.9573T>C	XP_024310156.1:p.Asp3191=
XM_024454389.1:c.9162T>C	XP_024310157.1:p.Asp3054=
NM_001369.3:c.10560T>C MANE Select	NP_001360.1:p.Asp3520=